An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
A characteristic symptom complex.
Monomeric subunits of primarily globular ACTIN and found in the cytoplasmic matrix of almost all cells. They are often associated with microtubules and may play a role in cytoskeletal function and/or mediate movement of the cell or the organelles within the cell.
An abnormal balloon- or sac-like dilatation in the wall of AORTA.
Congenital displacement of the lens resulting from defective zonule formation.
Aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the intima and media causes luminal occlusion. Dissection at the media, or between the media and the outer adventitia causes aneurismal dilation.
An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.
Components of the extracellular matrix consisting primarily of fibrillin. They are essential for the integrity of elastic fibers.
The condition of an anatomical structure's being dilated beyond normal dimensions.
An abnormal balloon- or sac-like dilatation in the wall of the THORACIC AORTA. This proximal descending portion of aorta gives rise to the visceral and the parietal branches above the aortic hiatus at the diaphragm.
Abnormal protrusion or billowing of one or both of the leaflets of MITRAL VALVE into the LEFT ATRIUM during SYSTOLE. This allows the backflow of blood into left atrium leading to MITRAL VALVE INSUFFICIENCY; SYSTOLIC MURMURS; or CARDIAC ARRHYTHMIA.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Connective tissue comprised chiefly of elastic fibers. Elastic fibers have two components: ELASTIN and MICROFIBRILS.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax.
'Elastin' is a highly elastic protein in connective tissue that allows many tissues in the body to resume their shape after stretching or contracting, such as the skin, lungs, and blood vessels.
The main trunk of the systemic arteries.
Pathological processes involving any part of the AORTA.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Surgical insertion of BLOOD VESSEL PROSTHESES to repair injured or diseased blood vessels.
Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus.
Pathological condition characterized by the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to regurgitation. It is caused by diseases of the AORTIC VALVE or its surrounding tissue (aortic root).
The portion of the descending aorta proceeding from the arch of the aorta and extending to the DIAPHRAGM, eventually connecting to the ABDOMINAL AORTA.

Endothelial function in Marfan syndrome: selective impairment of flow-mediated vasodilation. (1/518)

BACKGROUND: The cardiovascular complications of Marfan syndrome arise due to alterations in the structural and functional properties of fibrillin, a constituent of vascular connective tissues. Fibrillin-containing microfibrils are closely associated with arterial endothelial cells, indicating a possible functional role for fibrillin in the endothelium. Plasma concentrations of endothelial cell products are elevated in Marfan subjects, which indirectly indicates endothelial dysfunction. This study directly assessed flow- and agonist-mediated endothelium-dependent brachial artery reactivity in Marfan subjects. METHODS AND RESULTS: In 20 Marfan and 20 control subjects, brachial artery diameter, blood flow, and blood pressure were measured by ultrasonic wall tracking, Doppler ultrasound, and photoplethysmography, respectively. Measurements were taken during hand hyperemia (a stimulus for endothelium-derived nitric oxide [NO] release in the upstream brachial artery) and after sublingual administration of the endothelium-independent vasodilator nitroglycerin. In 9 Marfan and 6 control subjects, the above parameters were also assessed during intra-arterial infusions of acetylcholine and bradykinin (agonists that stimulate NO production) and NG-monomethyl-L-arginine (L-NMMA, an inhibitor of NO production). Flow-mediated responses differed markedly between Marfan and control subjects (-1.6+/-3.5% versus 6. 50+/-4.1%, respectively; P<0.0001), whereas nitroglycerin produced similar vasodilation (14.2+/-5.7% versus 15.2+/-7.8%; P=NS). Agonist-induced vasodilation to incremental intra-arterial infusions of acetylcholine and bradykinin were not significantly different between Marfan and control subjects, and intra-arterial L-NMMA produced similar reductions in brachial artery diameter in both groups. CONCLUSIONS: These data demonstrate impaired flow-mediated but preserved agonist-mediated endothelium-dependent vasodilation in Marfan subjects and suggest preservation of basal NO release. Selective loss of flow-mediated dilation suggests a role for fibrillin in endothelial cell mechanotransduction.  (+info)

Intimal tear without hematoma: an important variant of aortic dissection that can elude current imaging techniques. (2/518)

BACKGROUND: The modern imaging techniques of transesophageal echocardiography, CT, and MRI are reported to have up to 100% sensitivity in detecting the classic class of aortic dissection; however, anecdotal reports of patient deaths from a missed diagnosis of subtle classes of variants are increasingly being noted. METHODS AND RESULTS: In a series of 181 consecutive patients who had ascending or aortic arch repairs, 9 patients (5%) had subtle aortic dissection not diagnosed preoperatively. All preoperative studies in patients with missed aortic dissection were reviewed in detail. All 9 patients (2 with Marfan syndrome, 1 with Takayasu's disease) with undiagnosed aortic dissection had undergone >/=3 imaging techniques, with the finding of ascending aortic dilatation (4.7 to 9 cm) in all 9 and significant aortic valve regurgitation in 7. In 6 patients, an eccentric ascending aortic bulge was present but not diagnostic of aortic dissection on aortography. At operation, aortic dissection tears were limited in extent and involved the intima without extensive undermining of the intima or an intimal "flap." Eight had composite valve grafts inserted, and all survived. Of the larger series of 181 patients, 98% (179 of 181) were 30-day survivors. CONCLUSIONS: In patients with suspected aortic dissection not proven by modern noninvasive imaging techniques, further study should be performed, including multiple views of the ascending aorta by aortography. If patients have an ascending aneurysm, particularly if eccentric on aortography and associated with aortic valve regurgitation, an urgent surgical repair should be considered, with excellent results expected.  (+info)

Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation. (3/518)

Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although one of the parents had to be an obligatory carrier for the mutation, we could not detect the mutation in the leukocyte DNA of either parent. To identify which parent was a mosaic for the mutation we analyzed several tissues from both parents, with a quantitative and sensitive solid-phase minisequencing method. The mutation was not, however, detectable in any of the analyzed tissues. Although the mutation could not be identified in a sperm sample from the father or in samples of multiple tissue from the mother, we concluded that the mother was the likely mosaic parent and that the mutation must have occurred during the early development of her germ-line cells. Mosaicism confined to germ-line cells has rarely been reported, and this report of mosaicism for the FBN1 mutation in MFS represents an important case, in light of the evaluation of the recurrence risk in genetic counseling of families with MFS.  (+info)

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. (4/518)

Dissecting aortic aneurysm is the hallmark of Marfan syndrome (MFS) and the result of mutations in fibrillin-1, the major constituent of elastin-associated extracellular microfibrils. It is yet to be established whether dysfunction of fibrillin-1 perturbs the ability of the elastic vessel wall to sustain hemodynamic stress by disrupting microfibrillar assembly, by impairing the homeostasis of established elastic fibers, or by a combination of both mechanisms. The pathogenic sequence responsible for the mechanical collapse of the elastic lamellae in the aortic wall is also unknown. Targeted mutation of the mouse fibrillin-1 gene has recently suggested that deficiency of fibrillin-1 reduces tissue homeostasis rather than elastic fiber formation. Here we describe another gene-targeting mutation, mgR, which shows that underexpression of fibrillin-1 similarly leads to MFS-like manifestations. Histopathological analysis of mgR/mgR specimens implicates medial calcification, the inflammatory-fibroproliferative response, and inflammation-mediated elastolysis in the natural history of dissecting aneurysm. More generally, the phenotypic severity associated with various combinations of normal and mutant fibrillin-1 alleles suggests a threshold phenomenon for the functional collapse of the vessel wall that is based on the level and the integrity of microfibrils.  (+info)

Fragile lung in the Marfan syndrome. (5/518)

Two cases of the Marfan syndrome presented with spontaneous pneumothorax. Both had chest radiographs showing bilateral bullae in the upper lung zones and pulmonary function tests consistent with mild emphysema. There were dereases in forced expiratory flow rates at low lung volumes, carbon monoxide transfer factor, and lung elastic recoil. It is suggested that pneumothorax and bullous emphysema in this syndrome are caused by a weakness in the pulmonary connective tissue framework.  (+info)

Replacement of the aortic root in patients with Marfan's syndrome. (6/518)

BACKGROUND: Replacement of the aortic root with a prosthetic graft and valve in patients with Marfan's syndrome may prevent premature death from rupture of an aneurysm or aortic dissection. We reviewed the results of this surgical procedure at 10 experienced surgical centers. METHODS: A total of 675 patients with Marfan's syndrome underwent replacement of the aortic root. Survival and morbidity-free survival curves were calculated, and risk factors were determined from a multivariable regression analysis. RESULTS: The 30-day mortality rate was 1.5 percent among the 455 patients who underwent elective repair, 2.6 percent among the 117 patients who underwent urgent repair (within 7 days after a surgical consultation), and 11.7 percent among the 103 patients who underwent emergency repair (within 24 hours after a surgical consultation). Of the 675 patients, 202 (30 percent) had aortic dissection involving the ascending aorta. Forty-six percent of the 158 adult patients with aortic dissection and a documented aortic diameter had an aneurysm with a diameter of 6.5 cm or less. There were 114 late deaths (more than 30 days after surgery); dissection or rupture of the residual aorta (22 patients) and arrhythmia (21 patients) were the principal causes of late death. The risk of death was greatest within the first 60 days after surgery, then rapidly decreased to a constant level by the end of the first year. CONCLUSIONS: Elective aortic-root replacement has a low operative mortality. In contrast, emergency repair, usually for acute aortic dissection, is associated with a much higher early mortality. Because nearly half the adult patients with aortic dissection had an aortic-root diameter of 6.5 cm or less at the time of operation, it may be prudent to undertake prophylactic repair of aortic aneurysms in patients with Marfan's syndrome when the diameter of the aorta is well below that size.  (+info)

Joint hypermobility and genetic collagen disorders: are they related? (7/518)

The HDCTs constitute a heterogeneous group of rare genetically determined diseases, the best known of which are Ehlers-Danlos and Marfan syndromes and osteogenesis imperfecta. Hypermobility is a feature common to them all, but it is also a feature that is highly prevalent in the population at large. Symptomatic hypermobile subjects (whose symptoms are attributable to their hypermobility) are said to be suffering from the benign joint hypermobility syndrome, which has many features that overlap with the HDCTs. It is not yet known whether there is a variety of hypermobility (symptomatic or otherwise) that is not part of a connective tissue disorder.  (+info)

Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. (8/518)

BACKGROUND: In patients with Marfan syndrome (MFS), brachial pulse pressure (PP) has been recognized as a risk factor for aortic dilatation, leading to aortic dissection, the main cause of premature death. However, the relationships between aortic PP, aortic stiffness, and aortic root dilation have not been investigated. Our main objective was to determine whether central PP, which takes into account wave reflections and aortic stiffness, is a better determinant of ascending aorta diameter than brachial PP in MFS patients. METHODS AND RESULTS: Twenty patients with confirmed MFS and 20 age- and sex-matched control subjects were included in this cross-sectional, noninvasive study. Elastic properties of the abdominal aorta and common carotid, common femoral, and radial arteries were calculated from the pulsatile changes in arterial diameter and pressure. The ascending aorta diameter, measured with conventional echocardiography, was 37% larger in MFS than in control subjects (P<0.001). Arterial distensibility was 38% lower in MFS than in control subjects at the site of the abdominal aorta (P<0.01) but not at other sites (common carotid, common femoral, and radial arteries). Independently of age and body surface area, ascending aorta diameter was positively correlated with carotid PP in MFS (P<0. 01) and negatively in control subjects (P<0.01) but was not correlated with brachial PP and mean blood pressure. CONCLUSIONS: In patients with MFS, local PP, estimated from carotid PP, was a major determinant of ascending aorta diameter, whereas brachial PP was not. Increased arterial stiffness was confined to the aorta.  (+info)

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue helps to strengthen and support various structures in the body, including the skin, ligaments, blood vessels, and heart. In Marfan syndrome, the body produces an abnormal amount of a protein called fibrillin-1, which is a key component of connective tissue. This leads to problems with the formation and function of connective tissue throughout the body.

The most serious complications of Marfan syndrome typically involve the heart and blood vessels. The aorta, which is the large artery that carries blood away from the heart, can become weakened and stretched, leading to an increased risk of aortic dissection or rupture. Other common features of Marfan syndrome include long, thin fingers and toes; tall stature; a curved spine; and eye problems such as nearsightedness and lens dislocation.

Marfan syndrome is usually inherited in an autosomal dominant pattern, which means that a child has a 50% chance of inheriting the gene mutation from a parent who has the condition. However, about 25% of cases are the result of a new mutation and occur in people with no family history of the disorder. There is no cure for Marfan syndrome, but treatment can help to manage the symptoms and reduce the risk of complications.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Microfilament proteins are a type of structural protein that form part of the cytoskeleton in eukaryotic cells. They are made up of actin monomers, which polymerize to form long, thin filaments. These filaments are involved in various cellular processes such as muscle contraction, cell division, and cell motility. Microfilament proteins also interact with other cytoskeletal components like intermediate filaments and microtubules to maintain the overall shape and integrity of the cell. Additionally, they play a crucial role in the formation of cell-cell junctions and cell-matrix adhesions, which are essential for tissue structure and function.

An aortic aneurysm is a medical condition characterized by the abnormal widening or bulging of the wall of the aorta, which is the largest artery in the body. The aorta carries oxygenated blood from the heart to the rest of the body. When the aortic wall weakens, it can stretch and balloon out, forming an aneurysm.

Aortic aneurysms can occur anywhere along the aorta but are most commonly found in the abdominal section (abdominal aortic aneurysm) or the chest area (thoracic aortic aneurysm). The size and location of the aneurysm, as well as the patient's overall health, determine the risk of rupture and associated complications.

Aneurysms often do not cause symptoms until they become large or rupture. Symptoms may include:

* Pain in the chest, back, or abdomen
* Pulsating sensation in the abdomen
* Difficulty breathing
* Hoarseness
* Coughing or vomiting

Risk factors for aortic aneurysms include age, smoking, high blood pressure, family history, and certain genetic conditions. Treatment options depend on the size and location of the aneurysm and may include monitoring, medication, or surgical repair.

Ectopia lentis is a medical term that refers to the displacement or malpositioning of the lens in the eye. The lens, which is normally located behind the iris and held in place by tiny fibers called zonules, can become dislocated due to various reasons such as genetic disorders like Marfan syndrome, trauma, or other ocular diseases.

When the lens becomes displaced, it can cause a variety of symptoms including blurry vision, double vision, sensitivity to light, and distorted images. In some cases, ectopia lentis may be asymptomatic and only discovered during a routine eye examination. Treatment for ectopia lentis depends on the severity of the displacement and any associated symptoms. In mild cases, no treatment may be necessary, while in more severe cases, surgery may be required to reposition or remove the lens and replace it with an artificial one.

A dissecting aneurysm is a serious and potentially life-threatening condition that occurs when there is a tear in the inner layer of the artery wall, allowing blood to flow between the layers of the artery wall. This can cause the artery to bulge or balloon out, leading to a dissection aneurysm.

Dissecting aneurysms can occur in any artery, but they are most commonly found in the aorta, which is the largest artery in the body. When a dissecting aneurysm occurs in the aorta, it is often referred to as a "dissecting aortic aneurysm."

Dissecting aneurysms can be caused by various factors, including high blood pressure, atherosclerosis (hardening and narrowing of the arteries), genetic disorders that affect the connective tissue, trauma, or illegal drug use (such as cocaine).

Symptoms of a dissecting aneurysm may include sudden severe chest or back pain, which can feel like ripping or tearing, shortness of breath, sweating, lightheadedness, or loss of consciousness. If left untreated, a dissecting aneurysm can lead to serious complications, such as rupture of the artery, stroke, or even death.

Treatment for a dissecting aneurysm typically involves surgery or endovascular repair to prevent further damage and reduce the risk of rupture. The specific treatment approach will depend on various factors, including the location and size of the aneurysm, the patient's overall health, and their medical history.

Loeys-Dietz Syndrome (LDS) is a genetic disorder that affects the connective tissue in the body. It is characterized by widespread arterial abnormalities, including aneurysms and dissections, which can occur at a young age and in smaller arteries than is typically seen in other genetic disorders. LDS also features distinctive facial features, skeletal abnormalities, and skin manifestations.

The syndrome is caused by mutations in genes that provide instructions for making proteins involved in the development and maintenance of the connective tissue, which provides structure, strength, and flexibility to various parts of the body. The most commonly affected genes are TGFBR1 and TGFBR2, which encode transforming growth factor beta receptors 1 and 2, respectively.

LDS is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo (spontaneous) mutations can also occur, resulting in individuals with LDS who do not have a family history of the condition.

Due to the significant risk of arterial complications and other potentially life-threatening manifestations, individuals with LDS require close medical monitoring and management by a multidisciplinary team of healthcare professionals.

Microfibrils are tiny, thread-like structures that are found in the extracellular matrix (the material that surrounds and supports cells) of many types of biological tissues. They are made up of bundles of long, thin proteins called fibrillins, which are joined together by other proteins such as microfibril-associated glycoproteins (MAGPs).

Microfibrils play an important role in providing structural support and elasticity to tissues. They are particularly abundant in the connective tissue that surrounds blood vessels, where they help to regulate the diameter of the vessels and maintain blood pressure. Microfibrils are also found in the elastic fibers of the lungs, skin, and other tissues, where they contribute to the ability of these tissues to stretch and recoil.

In addition to their structural roles, microfibrils have been shown to play a role in regulating cell behavior and signaling. For example, they can bind to growth factors and other signaling molecules, helping to control the activity of these molecules and influence cellular processes such as proliferation, differentiation, and migration.

Abnormalities in microfibril structure or function have been linked to a number of diseases, including Marfan syndrome, Loeys-Dietz syndrome, and cutis laxa. These conditions are characterized by problems with connective tissue strength and elasticity, which can lead to a range of symptoms such as skeletal abnormalities, cardiovascular disease, and skin fragility.

Pathologic dilatation refers to an abnormal and excessive widening or enlargement of a body cavity or organ, which can result from various medical conditions. This abnormal dilation can occur in different parts of the body, including the blood vessels, digestive tract, airways, or heart chambers.

In the context of the cardiovascular system, pathologic dilatation may indicate a weakening or thinning of the heart muscle, leading to an enlarged chamber that can no longer pump blood efficiently. This condition is often associated with various heart diseases, such as cardiomyopathy, valvular heart disease, or long-standing high blood pressure.

In the gastrointestinal tract, pathologic dilatation may occur due to mechanical obstruction, neuromuscular disorders, or inflammatory conditions that affect the normal motility of the intestines. Examples include megacolon in Hirschsprung's disease, toxic megacolon in ulcerative colitis, or volvulus (twisting) of the bowel.

Pathologic dilatation can lead to various complications, such as reduced organ function, impaired circulation, and increased risk of infection or perforation. Treatment depends on the underlying cause and may involve medications, surgery, or other interventions to address the root problem and prevent further enlargement.

A thoracic aortic aneurysm is a localized dilatation or bulging of the thoracic aorta, which is the part of the aorta that runs through the chest cavity. The aorta is the largest artery in the body, and it carries oxygenated blood from the heart to the rest of the body.

Thoracic aortic aneurysms can occur anywhere along the thoracic aorta, but they are most commonly found in the aortic arch or the descending thoracic aorta. These aneurysms can vary in size, and they are considered significant when they are 50% larger than the expected normal diameter of the aorta.

The exact cause of thoracic aortic aneurysms is not fully understood, but several factors can contribute to their development, including:

* Atherosclerosis (hardening and narrowing of the arteries)
* High blood pressure
* Genetic disorders such as Marfan syndrome or Ehlers-Danlos syndrome
* Infections or inflammation of the aorta
* Trauma to the chest

Thoracic aortic aneurysms can be asymptomatic and found incidentally on imaging studies, or they may present with symptoms such as chest pain, cough, difficulty swallowing, or hoarseness. If left untreated, thoracic aortic aneurysms can lead to serious complications, including aortic dissection (tearing of the inner layer of the aorta) or rupture, which can be life-threatening.

Treatment options for thoracic aortic aneurysms include medical management with blood pressure control and cholesterol-lowering medications, as well as surgical repair or endovascular stenting, depending on the size, location, and growth rate of the aneurysm. Regular follow-up imaging is necessary to monitor the size and progression of the aneurysm over time.

Mitral valve prolapse (MVP) is a heart condition where the mitral valve, which separates the left atrium and left ventricle in the heart, doesn't function properly. In MVP, one or both of the mitral valve flaps (known as leaflets) bulge or billow into the left atrium during the contraction of the left ventricle. This prolapse can cause a leakage of blood back into the atrium, known as mitral regurgitation. In many cases, MVP is asymptomatic and doesn't require treatment, but in some instances, it may lead to complications such as infective endocarditis or arrhythmias. The exact causes of MVP are not fully understood, but it can be associated with certain genetic factors, connective tissue disorders, and mitral valve abnormalities present at birth.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

Elastic tissue is a type of connective tissue found in the body that is capable of returning to its original shape after being stretched or deformed. It is composed mainly of elastin fibers, which are protein molecules with a unique structure that allows them to stretch and recoil. Elastic tissue is found in many areas of the body, including the lungs, blood vessels, and skin, where it provides flexibility and resilience.

The elastin fibers in elastic tissue are intertwined with other types of connective tissue fibers, such as collagen, which provide strength and support. The combination of these fibers allows elastic tissue to stretch and recoil efficiently, enabling organs and tissues to function properly. For example, the elasticity of lung tissue allows the lungs to expand and contract during breathing, while the elasticity of blood vessels helps maintain blood flow and pressure.

Elastic tissue can become less flexible and resilient with age or due to certain medical conditions, such as emphysema or Marfan syndrome. This can lead to a variety of health problems, including respiratory difficulties, cardiovascular disease, and skin sagging.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Pectus Excavatum, commonly referred to as "Funnel Chest," is a congenital deformity of the chest wall where the sternum (breastbone) and rib cartilages grow inward, creating a sunken or caved-in appearance of the chest. This condition can vary in severity, from mild to severe, and may affect one's appearance, breathing, and overall health. In some cases, surgical intervention might be required to correct the deformity and improve related symptoms.

Elastin is a protein that provides elasticity to tissues and organs, allowing them to resume their shape after stretching or contracting. It is a major component of the extracellular matrix in many tissues, including the skin, lungs, blood vessels, and ligaments. Elastin fibers can stretch up to 1.5 times their original length and then return to their original shape due to the unique properties of this protein. The elastin molecule is made up of cross-linked chains of the protein tropoelastin, which are produced by cells called fibroblasts and then assembled into larger elastin fibers by enzymes called lysyl oxidases. Elastin has a very long half-life, with some estimates suggesting that it can remain in the body for up to 70 years or more.

The aorta is the largest artery in the human body, which originates from the left ventricle of the heart and carries oxygenated blood to the rest of the body. It can be divided into several parts, including the ascending aorta, aortic arch, and descending aorta. The ascending aorta gives rise to the coronary arteries that supply blood to the heart muscle. The aortic arch gives rise to the brachiocephalic, left common carotid, and left subclavian arteries, which supply blood to the head, neck, and upper extremities. The descending aorta travels through the thorax and abdomen, giving rise to various intercostal, visceral, and renal arteries that supply blood to the chest wall, organs, and kidneys.

Aortic diseases refer to conditions that affect the aorta, which is the largest and main artery in the body. The aorta carries oxygenated blood from the heart to the rest of the body. Aortic diseases can weaken or damage the aorta, leading to various complications. Here are some common aortic diseases with their medical definitions:

1. Aortic aneurysm: A localized dilation or bulging of the aortic wall, which can occur in any part of the aorta but is most commonly found in the abdominal aorta (abdominal aortic aneurysm) or the thoracic aorta (thoracic aortic aneurysm). Aneurysms can increase the risk of rupture, leading to life-threatening bleeding.
2. Aortic dissection: A separation of the layers of the aortic wall due to a tear in the inner lining, allowing blood to flow between the layers and potentially cause the aorta to rupture. This is a medical emergency that requires immediate treatment.
3. Aortic stenosis: A narrowing of the aortic valve opening, which restricts blood flow from the heart to the aorta. This can lead to shortness of breath, chest pain, and other symptoms. Severe aortic stenosis may require surgical or transcatheter intervention to replace or repair the aortic valve.
4. Aortic regurgitation: Also known as aortic insufficiency, this condition occurs when the aortic valve does not close properly, allowing blood to leak back into the heart. This can lead to symptoms such as fatigue, shortness of breath, and palpitations. Treatment may include medication or surgical repair or replacement of the aortic valve.
5. Aortitis: Inflammation of the aorta, which can be caused by various conditions such as infections, autoimmune diseases, or vasculitides. Aortitis can lead to aneurysms, dissections, or stenosis and may require medical treatment with immunosuppressive drugs or surgical intervention.
6. Marfan syndrome: A genetic disorder that affects the connective tissue, including the aorta. People with Marfan syndrome are at risk of developing aortic aneurysms and dissections, and may require close monitoring and prophylactic surgery to prevent complications.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Blood vessel prosthesis implantation is a surgical procedure in which an artificial blood vessel, also known as a vascular graft or prosthetic graft, is inserted into the body to replace a damaged or diseased native blood vessel. The prosthetic graft can be made from various materials such as Dacron (polyester), PTFE (polytetrafluoroethylene), or bovine/human tissue.

The implantation of a blood vessel prosthesis is typically performed to treat conditions that cause narrowing or blockage of the blood vessels, such as atherosclerosis, aneurysms, or traumatic injuries. The procedure may be used to bypass blocked arteries in the legs (peripheral artery disease), heart (coronary artery bypass surgery), or neck (carotid endarterectomy). It can also be used to replace damaged veins for hemodialysis access in patients with kidney failure.

The success of blood vessel prosthesis implantation depends on various factors, including the patient's overall health, the location and extent of the vascular disease, and the type of graft material used. Possible complications include infection, bleeding, graft thrombosis (clotting), and graft failure, which may require further surgical intervention or endovascular treatments.

Tricuspid valve prolapse is a cardiac condition where the tricuspid valve, located between the right atrium and right ventricle of the heart, doesn't close properly due to one or more of its leaflets (flaps) bulging or billowing into the right atrium during contraction of the right ventricle. This allows the backflow of blood from the right ventricle into the right atrium, known as tricuspid regurgitation. In some cases, tricuspid valve prolapse may not cause any symptoms and can be an incidental finding on echocardiography. However, if severe tricuspid regurgitation occurs, it can lead to right-sided heart failure, atrial arrhythmias, and other complications. The condition is often associated with mitral valve prolapse or other connective tissue disorders.

Aortic valve insufficiency, also known as aortic regurgitation or aortic incompetence, is a cardiac condition in which the aortic valve does not close properly during the contraction phase of the heart cycle. This allows blood to flow back into the left ventricle from the aorta, instead of being pumped out to the rest of the body. As a result, the left ventricle must work harder to maintain adequate cardiac output, which can lead to left ventricular enlargement and heart failure over time if left untreated.

The aortic valve is a trileaflet valve that lies between the left ventricle and the aorta. During systole (the contraction phase of the heart cycle), the aortic valve opens to allow blood to be pumped out of the left ventricle into the aorta and then distributed to the rest of the body. During diastole (the relaxation phase of the heart cycle), the aortic valve closes to prevent blood from flowing back into the left ventricle.

Aortic valve insufficiency can be caused by various conditions, including congenital heart defects, infective endocarditis, rheumatic heart disease, Marfan syndrome, and trauma. Symptoms of aortic valve insufficiency may include shortness of breath, fatigue, chest pain, palpitations, and edema (swelling). Diagnosis is typically made through physical examination, echocardiography, and other imaging studies. Treatment options depend on the severity of the condition and may include medication, surgery to repair or replace the aortic valve, or a combination of both.

The thoracic aorta is the segment of the largest artery in the human body (the aorta) that runs through the chest region (thorax). The thoracic aorta begins at the aortic arch, where it branches off from the ascending aorta, and extends down to the diaphragm, where it becomes the abdominal aorta.

The thoracic aorta is divided into three parts: the ascending aorta, the aortic arch, and the descending aorta. The ascending aorta rises from the left ventricle of the heart and is about 2 inches (5 centimeters) long. The aortic arch curves backward and to the left, giving rise to the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery. The descending thoracic aorta runs downward through the chest, passing through the diaphragm to become the abdominal aorta.

The thoracic aorta supplies oxygenated blood to the upper body, including the head, neck, arms, and chest. It plays a critical role in maintaining blood flow and pressure throughout the body.

Wikimedia Commons has media related to Marfan syndrome. Marfan syndrome at Curlie Orphanet's disease page on Marfan syndrome ( ... "What is Marfan Syndrome?". Marfan Trust. Archived from the original on 2015-06-10. Retrieved 2015-06-01. "Marfan Syndrome: The ... Estimates indicate about 1 in 5,000 to 10,000 individuals have Marfan syndrome. Marfan syndrome is named after Antoine Marfan, ... did not have Marfan Syndrome) Ehlers-Danlos syndrome Kashin-Beck disease Loeys-Dietz syndrome Nail-Patella syndrome Mitral ...
... is a syndrome in which there is association of spastic paraplegia of the lower limbs and mental ... Syndromes with intellectual disability, Syndromes affecting the nervous system, Syndromes caused by microbes, All stub articles ... Revue Franc Pédiat 1936; 12: 1-16 Dennie-Marfan syndrome at Who Named It? v t e (Articles with short description, Short ... Epilepsy, cataract, and nystagmus may also be found.[citation needed] The syndrome was described by Charles Clayton Dennie in ...
Antoine Marfan first describes the symptoms of Marfan syndrome. An improved sphygmomanometer, for the measurement of blood ... "Antoine Bernard-Jean Marfan". Whonamedit?. Retrieved 2011-11-23. "Marfan Syndrome". Johns Hopkins Medicine. Retrieved 2011-11- ... Marfan, Antoine (1896). "Un cas de déformation congénitale des quartre membres, plus prononcée aux extrémitiés, caractérisée ...
Marfan syndrome, Van der Woude Syndrome, and neurofibromatosis. The characteristics of Marfan syndrome widely vary among ... "Marfan syndrome". Genetics Home Reference. Retrieved 2019-10-09. "FBN1 gene". Genetics Home Reference. Retrieved 2019-10-09. " ... Van der Woude syndrome is a condition that affects the development of the face, specifically a cleft lip (see figure 2), cleft ... The syndrome affects connective tissue in the body and has a spectrum of symptoms ranging from mild bone and joint involvement ...
... is common in Marfan syndrome, occurring in 63-92% of people with the syndrome. It may also occur in Ehlers-Danlos ... However, it is associated with chronic pain in patients with Marfan syndrome, suggesting it is a structural risk factor. There ... It has been reported that acetazolamide can be used to treat dural ectasia in individuals with Marfan syndrome, however, the ... Altman, A; Uliel, L; Caspi, L (March 2008). "Dural ectasia as presenting symptom of Marfan syndrome" (PDF). The Israel Medical ...
Marfan syndrome Obesity Joint infection While osteoarthritis is a degenerative joint disease that may cause gross cartilage ... "Marfan Syndrome". The Lecturio Medical Concept Library. Retrieved 22 August 2021. "Obesity". The Lecturio Medical Concept ... Ehlers-Danlos syndrome Hemochromatosis and Wilson's disease Inflammatory diseases (such as Perthes' disease), (Lyme disease), ... "Ehlers-Danlos Syndrome". The Lecturio Medical Concept Library. Retrieved 22 August 2021. "Hereditary Hemochromatosis". The ...
Marfan's syndrome and Ehlers-Danlos syndromes) are generally autosomal dominant, because it is enough that some components are ... Another example is Marfan syndrome, an inherited connective tissue disorder, caused by a mutation in the fibrillin-1 (FBN1) ... "Marfan Syndrome". National Institute of Arthritis and Musculoskeletal and Skin Diseases. Retrieved 2022-03-18. Schomburg I; ...
Various illnesses have been put forward, with Frölich's syndrome or Marfan syndrome being mentioned most commonly. Cyril Aldred ... Marfan syndrome is a dominant characteristic, which means those affected have a 50% chance of passing it on to their children. ... People with Marfan syndrome tend towards tallness, with a long, thin face, elongated skull, overgrown ribs, a funnel or pigeon ... However, DNA tests on Tutankhamun in 2010 proved negative for Marfan syndrome. By the early 21st century, most Egyptologists ...
Marfan syndrome (MFS) is an autosomal dominant disorder which affects 1 in 5-10,000 people. MFS arises from a mutation in the ... "Marfan Syndrome". National Organization for Rare Disorders. 2017. Retrieved 5 November 2016. Garland, Theodore; Morgan, Martin ... Without medical intervention, prognosis of Marfan syndrome can range from moderate to life-threatening, with 90% of known ...
"Marfan syndrome". Bio-Medicine. Retrieved 2008-05-18. Brent Collins at IMDb Brent Collins at Find a Grave v t e (Articles ... Collins, a dwarf, was diagnosed with Marfan syndrome, which typically causes above-average height. Late in 1987, Collins grew ... People with Marfan syndrome, Actors with dwarfism, American actors with disabilities, All stub articles, American television ...
"The Marfan Foundation Adopts New Brand to Better Reflect its Mission for Marfan Syndrome and Related Disorders". PRWeb. August ... Marfan syndrome Connective tissue disease "How We Help". The Marfan Foundation. Retrieved 2014-09-14. "Celebrate National ... In addition to providing grants for research on Marfan syndrome, the foundation raises awareness of the condition, which often ... The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the ...
Young I (December 1991). "Understanding Marfan's syndrome". BMJ. 303 (6815): 1414-5. doi:10.1136/bmj.303.6815.1414. PMC 1671667 ... Did Abraham Lincoln have Marfan syndrome? Did Karl Marx have hidradenitis suppurativa? Could Burke and Wills have died of ... Otaiku AI (April 2018). "Did René Descartes Have Exploding Head Syndrome?". Journal of Clinical Sleep Medicine. 14 (4): 675-8. ... Sacks O (2001). "Henry Cavendish: an early case of Asperger's syndrome?". Neurology. 57 (7): 1347. doi:10.1212/wnl.57.7.1347. ...
Medical conditions that can contribute to stretch marks include Ehlers-Danlos syndrome, Cushing's syndrome, Marfan syndrome, ... "Symptoms - Marfan syndrome". National Health Service. 3 October 2018. Retrieved 14 June 2023. Korgavkar K, Wang F (March 2015 ...
San Diego Supercomputer Center (SDSC). Chen, Harold (2019-03-08). Buehler, Bruce (ed.). "Genetics of Marfan Syndrome". Medscape ... "Cri Du Chat Syndrome (Cat Cry Syndrome)". Encyclopedia of Special Education. Wiley. Retrieved 27 September 2013. "Klinefelter ... Males with Klinefelter syndrome, who have an extra X chromosome, will also undergo X inactivation to have only one completely ... One example of an X-linked trait is Coffin-Lowry syndrome, which is caused by a mutation in ribosomal protein gene. This ...
San Diego Supercomputer Center (SDSC). Chen, Harold (2019-11-10). Buehler, Bruce (ed.). "Genetics of Marfan Syndrome". Medscape ... Scott, C. I. (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome". Birth ... "Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)". Journal of Clinical ...
Myopia may be present in heritable connective tissue disorders such as: Knobloch syndrome (OMIM 267750); Marfan syndrome (OMIM ... 154700); and Stickler syndrome (type 1, OMIM 108300; type 2, OMIM 604841). Myopia has also been reported in X-linked disorders ...
San Diego Supercomputer Center (SDSC). Chen, Harold (11 January 2021). Buehler, Bruce (ed.). "Genetics of Marfan Syndrome". ... Scott, C. I. (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: A new dysmorphic syndrome". Birth ...
Young, D.A.B. (1986). "Rachmaninov and Marfan's syndrome". British Medical Journal. 293 (6562): 1624-1626. doi:10.1136/bmj. ... and thin nose has led to the suggestion that he may have had Marfan syndrome, a hereditary disorder of the connective tissue. ... pointed out that Rachmaninoff did not show many of the typical signs of Marfan syndrome, and instead suggested that he may have ... This syndrome would have accounted for several minor ailments he suffered all his life, including back pain, arthritis, eye ...
Marfan's syndrome and many Ehlers-Danlos syndromes) are generally autosomal dominant, because it is enough that some components ... Keane MG; Pyeritz RE (May 2008). "Medical management of Marfan syndrome". Circulation. 117 (21): 2802-13. doi:10.1161/ ... Some X-linked dominant conditions, such as Rett syndrome, incontinentia pigmenti type 2, and Aicardi syndrome, are usually ... Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal ...
Song died from Marfan syndrome. Big Time Wrestling NWA Texas Tag Team Championship (2 times) - with Kim Il and Gino Hernandez ... People with Marfan syndrome, 20th-century professional wrestlers, NWA Florida Heavyweight Champions, NWA Southern Heavyweight ...
Dahnert's Radiology Van de Velde S, Fillman R, Yandow S (2006). "Protrusio acetabuli in Marfan syndrome. History, diagnosis, ... Bilateral protrusio acetabuli may be caused by rheumatoid arthritis, Paget's disease, osteomalacia, Marfan syndrome, and ...
Marfan syndrome or in some cases Weill-Marchesani syndrome. FBN1 is a 230-kb gene with 65 coding exons that encode a 2,871- ... Marfan Syndrome is a congenital disease that arises from a mutation in the FBN-1 gene. This leads to the malformation and ... Marfan syndrome (MFS) is an autosomal dominant disorder that affects the connective tissues of bodily systems such as the eyes ... GeneReviews/NCBI/NIH/UW entry on Marfan Syndrome Overview of all the structural information available in the PDB for UniProt: ...
... characteristics of Marfan syndrome) can increase the prevalence of the syndrome within sports such as basketball and volleyball ... Heritable connective tissue diseases are rare, each disorder estimated at one to ten per 100,000, of which Marfan syndrome is ... Dietz HC, Loeys B, Carta L, Ramirez F (November 2005). "Recent progress towards a molecular understanding of Marfan syndrome". ... Demak, Richard (February 17, 1986). "Marfan Syndrome: A Silent Killer". Sports Illustrated. Retrieved February 12, 2021. Raju H ...
"Please Know What Marfan Syndrome Is..." USAVolleyball. Archived from the original on February 2, 2023. Retrieved July 28, 2023 ... Doctors later discovered Hyman's brother Michael had an enlarged aorta, though he was clear of Marfan syndrome, and he ... subscription required) Demak, Richard (February 17, 1986). "Marfan Syndrome: A Silent Killer". Sports Illustrated. New York ... People with Marfan syndrome, Deaths from aortic dissection, Burials at Inglewood Park Cemetery, Sport deaths in Japan, Houston ...
"Isaiah Austin has Marfan syndrome". ESPN.com. June 22, 2014. Archived from the original on May 18, 2015. Retrieved June 22, ... who had declared for the draft but was forced to end his playing career after being diagnosed with Marfan syndrome during a ... which happened days after he was diagnosed with Marfan syndrome and originally was never considered to play professional ... Isaiah Austin was diagnosed with Marfan syndrome, a genetic disorder that affects connective tissue. Because the condition ...
Marfan syndrome, Ehlers-Danlos syndrome). Current USPSTF recommendations are for a single abdominal ultrasound screening for a ... a syndrome). The top two syndromic causes of congenital heart defects are Noonan syndrome and Down syndrome. Down syndrome is ... Sick sinus syndrome, Bradycardia-tachycardia syndrome (BTS) - Disease of the SA node that results in irregular changes in heart ... known for Wolff-Parkinson-White syndrome Louis Wolff (1898-1972) - known for Wolff-Parkinson-White syndrome Stewart Wolf (1914- ...
Callewaert B, Malfait F, Loeys B, De Paepe A (March 2008). "Ehlers-Danlos syndromes and Marfan syndrome". Best Practice & ... Marfan syndrome results from mutations in the FBN1 gene, defective production of the protein fibrillin-1, and a number of ... Marfan syndrome. However, ultrastructural abnormalities of the dermal connective tissue components are discernible in two out ... Ehlers-Danlos syndrome type 4, caused by mutations of the COL3A gene, leads to defective production of the collagen, type III, ...
Arachnodactyly Dolichostenomelia Marfan syndrome Ehlers-Danlos syndromes Cohen, Philip R.; Milewicz, Dianna McGookey (April ... such as Ehlers-Danlos syndromes, Marfan syndrome, and hypohidrotic ectodermal dysplasia., it often appears alongside ... Cohen, Philip R.; Milewicz, Dianna McGookey (9 April 2004). "Dolichonychia in women with Marfan syndrome". Southern Medical ... "Dolichonychia in women with Marfan syndrome". Southern Medical Journal. 97 (4): 354-358. doi:10.1097/01.SMJ.0000110333.94390.E1 ...
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann-Rautenstrauch syndrome, since the Marfanoid ... Progeroid syndromes, Syndromes, Autosomal recessive disorders, Genetic syndromes, Rare diseases, All stub articles, Genetic ... "OMIM Entry - #616914 - Marfan Lipodystrophy Syndrome ; MFLS". Online Mendelian Inheritance in Man (OMIM). Retrieved 2016-12-06 ... April 2014). "Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end ...
Antoine Marfan, French physician - Marfan syndrome. Margherita of Savoy, Italian queen - pizza margherita. although it probably ... Baron Munchausen, German baron - Munchausen syndrome, Munchausen syndrome by proxy Hugo Münsterberg, German-American ... Douglas Reye, Australian physician - Reye syndrome. R. J. Reynolds, American businessman - R. J. Reynolds Tobacco Company. Rhea ... Moritz Heinrich Romberg, German physician - Romberg's test, Parry-Romberg syndrome, Howship-Romberg sign. Nicola Romeo, Italian ...
... and Marfan's syndrome The case of an Egyptian Jewish family with 17 affected members. The mother also had ... Patients with other syndromes, including Pallister-Hall syndrome and Greig cephalopolysyndactyly syndrome may also display ... Fried K, Mundel G (June 1974). "Polysyndactyly and Marfan's syndrome". Journal of Medical Genetics. 11 (2): 141-144. doi: ... Temtamy SA (1 July 1966). "Carpenter's syndrome: Acrocephalopolysyndactyly. An autosomal recessive syndrome". The Journal of ...
Wikimedia Commons has media related to Marfan syndrome. Marfan syndrome at Curlie Orphanets disease page on Marfan syndrome ( ... "What is Marfan Syndrome?". Marfan Trust. Archived from the original on 2015-06-10. Retrieved 2015-06-01. "Marfan Syndrome: The ... Estimates indicate about 1 in 5,000 to 10,000 individuals have Marfan syndrome. Marfan syndrome is named after Antoine Marfan, ... did not have Marfan Syndrome) Ehlers-Danlos syndrome Kashin-Beck disease Loeys-Dietz syndrome Nail-Patella syndrome Mitral ...
Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Explore symptoms, inheritance, ... medlineplus.gov/genetics/condition/marfan-syndrome/ Marfan syndrome. ... Mizuguchi T, Matsumoto N. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. 2007;52( ... in people with Marfan syndrome. Dural ectasia can cause pain in the back, abdomen, legs, or head. Most individuals with Marfan ...
Longer arms in Marfan syndrome Enlarge image Close Longer arms in Marfan syndrome. Longer arms in Marfan syndrome. Marfan ... Finger length in Marfan syndrome Enlarge image Close Finger length in Marfan syndrome. Finger length in Marfan syndrome. People ... Foot pain and low back pain are common with Marfan syndrome.. Complications of pregnancy. Marfan syndrome can weaken the walls ... Marfan syndrome. Mayo Clinic; 2020.. *Your teen and Marfan or a related disorder. The Marfan Foundation. https://www.marfan.org ...
Marfan syndrome (MFS) is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high ... encoded search term (Genetics of Marfan Syndrome) and Genetics of Marfan Syndrome What to Read Next on Medscape ... Callewaert B, Malfait F, Loeys B, De Paepe A. Ehlers-Danlos syndromes and Marfan syndrome. Best Pract Res Clin Rheumatol. 2008 ... Prevalence of Functional GI Diseases and Pelvic Floor Symptoms in Marfan Syndrome and Ehlers-Danlos Syndrome: A National Cohort ...
He suffers from a severe form of Scoliosis, a progressive spinal deformity that requires immediate surgery, and Marfan Syndrome ...
Learn how combining a medical ID for Marfan syndrome with MedicAlert membership provides 24/7 protection in an emergency. ... Treatments for Marfan syndrome may include:. Medications. People with Marfan syndrome are often prescribed a type of medication ... The damage caused by Marfan syndrome can range from mild to severe. With Marfan syndrome, the walls of the aorta can weaken and ... your Marfan syndrome bracelet will speak for you - informing others about your Marfan syndrome and any medications youre ...
New NEI-supported research provides insight into the eye conditions associated with Marfan syndrome, where weakened zonule ... For information about Marfan syndrome, visit the National Institute of Arthritis and Musculoskeletal and Skin Diseases. ... Louis, and his team explored a key structural component of zonules called fibrillin-1. Marfan syndrome has been linked to more ... "These mice provide a useful model for testing new therapies for Marfan syndrome," said Bassnett. His teams work shows that the ...
Correspondence to Professor Guillaume Jondeau, Centre National de Référence pour le syndrome de Marfan et apparentés, Hôpital ...
Was your child diagnosed with Marfans Syndrome? Learn more about their condition including DOs and DONTs for how to manage ... What Are the Symptoms of Marfans Syndrome?. No major symptoms are usually seen with Marfans syndrome, so it can be hard to ... What Is Marfans Syndrome?. Marfans syndrome is an inherited disorder involving the bodys connective tissues. Connective ... How Is Marfans Syndrome Diagnosed?. The health care provider may suspect that the syndrome is present from the family history ...
Your Genes, Your Health, DNA Learning Centers multimedia guide to genetic, inherited disorders: Marfan syndrome, autosomal dominant, genetic disorder
In addition she had Marfans syndrome due to a new mutation and transmitted Marfans syndrome to one of her daughters who did ... Apparently the association of Marfans syndrome with polysyndactyly has not been previously described. ...
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Les Os Et Les Articulations Et Syndrome De Marfan. Le syndrome de Marfan est souvent à lorigine de problèmes au niveau des os ... Tags: Loeys-Dietz Syndrome, Marfan Syndrome, VEDS , Caregivers, Healthcare Professionals, Patients & Families ... People with Marfan syndrome are at up to 250 times greater risk of aortic dissection (a tear or rupture between layers of the ... Ce sont en réalité souvent ces caractéristiques qui amènent en premier une personne à soupçonner un syndrome de Marfan et à ...
Marfan Syndrome and Ectopia Lentis. Efforts to improve visual outcomes after lens surgery in this patient population.. ... Surgical Outcomes of Modified Capsular Tension Ring and Intraocular Lens Implantation in Marfan Syndrome With Ectopia Lentis ... The procedure holds promise for improving the vision of patients with Marfan syndrome, but realistic expectations must be set ... This consecutive retrospective case series sought to predict axial length (AL) growth in patients with Marfan syndrome (MFS) ...
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Marfan syndrome Articles Case Reports Symptoms Treatment, Mexico. ...
Marfans syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. Affected individuals ... Marfans Syndrome. Also known as arachnodactyly, Marfans syndrome is a rare hereditary disorder that causes connective tissue ... Because the Marfan syndrome appears in many forms, recommendations about exercise vary widely. People with dilation of the ... Many people with the Marfan syndrome can participate in modified physical and recreational activities without being overly ...
Marfan syndrome. Marfan syndrome is a genetic disorder that affects the bodys connective tissue. Connective tissue holds all ... Marfan syndrome. Marfan syndrome is a genetic disorder that affects the bodys connective tissue. Connective tissue holds all ...
Marfan Syndrome (Musculoskeletal Abnormalities). This man who has Marfan syndrome is unusually tall. His arm span exceeds his ...
Pregnancy in patients with Marfans syndrome (MFS) carries an increased risk of cardiovascular complications, resulting in ...
Aortic dissection, Marfan syndrome, Neurovascular accident, Pregnancy Persistent URL doi.org/10.1016/S0301-2115(01)00314-1, hdl ... The Marfan syndrome and pregnancy: A retrospective study in a Dutch population. Publication. Publication. European Journal of ... Objective: To assess the course and outcome of pregnancies in women with the Marfan syndrome with the aim of developing ... progression of dilatation and decreased cardiac function are risk factors in pregnancy for women with the Marfan syndrome. A ...
Marfan Syndrome, Q and A fruit and vegetables! ... below for related topics or Click here to go to Marfan Syndrome ... See below for related topics or Click here to go to Marfan Syndrome, Q and A page Click here for the ehso.com home page ...
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and ... A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and ... Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) Journal of Maternal-Fetal and Neonatal Medicine ... Marfan syndrome, Ehlers-Danlos syndrome, hereditary hemorrhagic telangiectasia) Journal of Maternal-Fetal and Neonatal Medicine ...
... Author(s): ... INTRODUCTION AND OBJECTIVES: Marfan syndrome is an inherited disease of the connective tissue. Recent trials have indicated the ... A total of 150 subjects diagnosed with Marfan syndrome, aged between 5 and 60 years, of both sexes, and who meet the Ghent ... Affiliation(s): Unidad de Marfan, Hospital Universitario 12 de Octubre, Madrid, Espana.. Publication date & source: 2011-06, ...
Marfans syndrome, ectopia lentis, rhegmatogenous retinal detachment, vitrectomy, silicone oil Abstract. Background: Marfans ... Marfans syndrome with rhegmatogenous retinal detachment: a case report and literature review Authors. * Kumudini Subedi ... Conclusion: Although serious and vision threatening manifestations may occur in the eye in cases of Marfans syndrome, early ... Although genetic testing was not possible, all features were suggestive of Marfans syndrome according to revised Ghent ...
The aim of the current study was to elucidate their functional role using a mouse model for Marfan syndrome, defective in ... The structural role of elastic fibres in the cornea investigated using a mouse model for Marfan syndrome. Investigative ... The structural role of elastic fibres in the cornea investigated using a mouse model for Marfan syndrome ...
Medical management of Marfan syndrome.. Martin G Keane, Reed E Pyeritz. Circulation 2008 May 28 ...
Patients diagnosed with Marfan syndrome were divided into 3 groups: those scheduled for prophylactic surgery, those needing ... A significant difference was found in trait anxiety between healthy individuals and patients with Marfan syndrome after acute ... As a result, life-saving and preventative cardiac surgical interventions are frequent among Marfan syndrome patients. Aortic ... We hypothesized that patients with Marfan syndrome have different level of anxiety, depression and satisfaction with life ...
Axial BMD is lower than normal in Marfan adults. This reduction may contribute to fractures seen in the Marfan population. ... has been reported in pre-menopausal women and children with Marfan syndrome (MFS). The bone mineral status of adult men with ... OBJECTIVES: Reduced bone mineral density (BMD) has been reported in pre-menopausal women and children with Marfan syndrome (MFS ... Absorptiometry, Photon, Adult, Aged, Bone Density, Female, Femur Neck, Hip, Humans, Lumbar Vertebrae, Male, Marfan Syndrome, ...
  • Many people with Marfan syndrome have additional heart problems including a leak in the valve that connects two of the four chambers of the heart (mitral valve prolapse) or the valve that regulates blood flow from the heart into the aorta (aortic valve regurgitation). (medlineplus.gov)
  • Many people with Marfan syndrome eventually require preventive surgery to repair the aorta. (mayoclinic.org)
  • With Marfan syndrome, the walls of the aorta can weaken and stretch, which may lead the aortic valve to leak and tear, or they can develop a bulge, known as an aneurysm. (medicalert.org)
  • People with Marfan syndrome are often prescribed a type of medication called beta-blockers to improve the heart's ability to relax and prevent or slow down the enlarging of the aorta. (medicalert.org)
  • Close surveillance of the Marfan aorta is recommended during pregnancy. (digitalnaturopath.com)
  • The aim of our clinical trial is to assess the efficacy and safety of losartan versus atenolol in the prevention of progressive dilation of the aorta in patients with Marfan syndrome. (druglib.com)
  • Other body areas affected by Marfan syndrome include lung tissue, the eyes (causing cataracts and slipped corneas), the skin (which is hyperelastic), the aorta, which can become weak and rupture, and the meninges covering the spinal cord. (medneg.com.au)
  • Pregnant women with Marfan syndrome need careful watching so they don't have complications of pregnancy due to their abnormal heart and aorta. (medneg.com.au)
  • Complications of Marfan syndrome include rupture of the aorta, regurgitation of the aortic valve, endocarditis from bacteria, dissecting aortic aneurysm, heart failure, scoliosis, mitral valve prolapse and visual disturbances from nearsightedness or dislocated lens. (medneg.com.au)
  • A serious problem caused by Marfan syndrome can occur if the heart and the aorta, the body's main artery, are significantly affected. (wales.nhs.uk)
  • More than 30 signs and symptoms are variably associated with Marfan syndrome. (wikipedia.org)
  • The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. (wikipedia.org)
  • The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. (medlineplus.gov)
  • The signs and symptoms of Marfan syndrome can vary greatly, even among members of the same family, because the disorder can affect so many different areas of the body. (mayoclinic.org)
  • Unfortunately, there is no cure for Marfan syndrome because gene mutations cannot be fixed or reversed, so treatment is aimed at managing symptoms as well as preventing potential issues. (medicalert.org)
  • However, none of the existing animal models of fibrillin-1 mutations replicate the eye symptoms that we see in people with Marfan syndrome. (nih.gov)
  • And they exhibited other Marfan-like symptoms, including cataract and abnormal enlargement of the eyeball, a condition thought to be responsible for high myopia in people with Marfan syndrome. (nih.gov)
  • What Are the Symptoms of Marfan's Syndrome? (carle.org)
  • No major symptoms are usually seen with Marfan's syndrome, so it can be hard to diagnose in children. (carle.org)
  • DO call your health care provider if you think that you or your family members have symptoms of the syndrome. (carle.org)
  • Marfan syndrome has no cure, but treatments can help people manage symptoms. (medicalnewstoday.com)
  • The typical symptoms of Marfan syndrome include a tall stature with thin arms, spider-like fingers-a medical condition known as arachnodactyly. (medneg.com.au)
  • Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms. (wales.nhs.uk)
  • Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. (wales.nhs.uk)
  • As the symptoms of Marfan syndrome do not always develop during childhood, it may not be identified until the teenage years. (wales.nhs.uk)
  • There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications. (wales.nhs.uk)
  • The symptoms of Marfan syndrome tend to get more severe as a person gets older. (wales.nhs.uk)
  • It's a rare syndrome, and your child will usually have a number of other symptoms if they have it. (wales.nhs.uk)
  • Born with Marfan syndrome, Bradford Cox first noticed symptoms of the illness around the age of 10. (tenmania.com)
  • Marfan symptoms vary from patient to patient but may include tall and slender build, disproportionate long arms, legs and finders, abnormal breastbone appearance, a high and arched palate with crowded teeth, heart murmurs, extreme nearsightedness, abnormally curved spine, and flat feet. (alike.health)
  • The mutations responsible for Marfan syndrome weaken the zonules and cause them to stretch. (wikipedia.org)
  • Mutations in the FBN1 gene cause Marfan syndrome. (medlineplus.gov)
  • Marfan syndrome has been linked to more than 3,000 fibrillin-1 mutations. (nih.gov)
  • The majority of mutations affecting the human fibrillin-1 gene, FBN1, result in Marfan syndrome (MFS), a common connective tissue disorder characterised by tall stature, ocular and cardiovascular defects. (eurekamag.com)
  • Recently, stiff skin syndrome (SSS) and a group of syndromes known collectively as the acromelic dysplasias, which typically result in short stature, skin thickening and joint stiffness, have been linked to FBN1 mutations that affect specific domains of the fibrillin-1 protein. (eurekamag.com)
  • Mutations in the FBN1 or fibrillin gene on chromosome 15 cause a genetic disorder called Marfan syndrome. (cshl.edu)
  • Prevention of Marfan syndrome is not really all that possible because there are so many spontaneous mutations. (medneg.com.au)
  • The syndrome is associated with mutations of the Fibrillin-1 (FBN-1) proteins [ 1 ] which normally acts to regulate transforming growth factor beta (TGF-β) in the extracellular matrix [ 3 ]. (e-roj.org)
  • This autosomal dominant syndrome has pleiotropic manifestations involving primarily the ocular, cardiovascular, and skeletal systems. (medscape.com)
  • Stickler syndrome is an autosomal dominant disorder , which means a person needs only one altered gene to develop the condition. (medicalnewstoday.com)
  • The same gene is mutant in the autosomal dominant form of the Weill-Marchesani syndrome ( 608328 ) which is allelic to the Marfan syndrome. (arizona.edu)
  • It is an autosomal dominant disease so that fifty percent of children of Marfan syndrome patients can get the disease. (medneg.com.au)
  • Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. (medscape.com)
  • The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome. (wales.nhs.uk)
  • Marfan syndrome (MFS) is an inherited autosomal dominant trait with an incidence of 1 in 5,000 individuals [ 1 ]. (e-roj.org)
  • Marfan syndrome is caused by a defect in the gene that enables your body to produce a protein that helps give connective tissue its elasticity and strength. (mayoclinic.org)
  • Most people with Marfan syndrome inherit the abnormal gene from a parent who has the disorder. (mayoclinic.org)
  • In about 25% of the people who have Marfan syndrome, the abnormal gene comes from neither parent. (mayoclinic.org)
  • Marfan syndrome is caused by a defect in a gene called FBN1 , which contains instructions for producing a protein known as fibrillin, a major component of connective tissue. (medicalert.org)
  • Most people with Marfan inherit it from a parent who has the condition, and each child of a parent with Marfan has a 50-50 chance of inheriting the defective gene. (medicalert.org)
  • This syndrome is caused by a genetic defect (gene mutation). (carle.org)
  • Marfan syndrome arises from a change in a gene that codes for the protein fibrillin, which is a key component of connective tissue. (medicalnewstoday.com)
  • Marfan's syndrome is associated with a mutation of the FBN1 gene. (healthline.com)
  • Marfan syndrome is caused by a defect in the gene called fibrillin-1. (medneg.com.au)
  • The mutated gene can be passed on to the child, who will then go on to develop the syndrome. (wales.nhs.uk)
  • Marfan syndrome is caused by a mutation in the gene that regulates the body's production of fibrilliin-1. (tenmania.com)
  • An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis. (ox.ac.uk)
  • There is no cure for Marfan syndrome, but the treatment focus is to prevent complication that may occur. (alike.health)
  • Funding for this research was provided by the National Eye Institute, Research to Prevent Blindness, and the National Marfan Foundation. (nih.gov)
  • The syndrome isn't curable, but diagnosis and proper treatments prolong life. (carle.org)
  • Although serious and vision threatening manifestations may occur in the eye in cases of Marfan's syndrome, early diagnosis and prompt treatment may be able to salvage vision. (nepjol.info)
  • In 99% of cases, a genetic test can be used to confirm a diagnosis of Marfan syndrome. (wales.nhs.uk)
  • In most cases, a diagnosis of Marfan syndrome is based on a thorough physical examination and a detailed assessment of a person's medical and family history. (wales.nhs.uk)
  • Accurate and early diagnosis of Marfan syndrome is essential as the disorder can be life-threatening if it is not properly monitored and treated. (tenmania.com)
  • Marfan is not easy to suspect, but when the suspicion arises genetic testing may confirm the diagnosis. (alike.health)
  • We present a patient with a history of Marfan syndrome requiring radiation for a diagnosis of a right brachial plexus malignant nerve sheath tumor. (e-roj.org)
  • 10-15% of individuals with a clinical diagnosis of Marfan Syndrome will have a mutation in the coding regions of TGFBR2. (nih.gov)
  • Marfan syndrome (MFS) is an inherited connective tissue disorder noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability. (medscape.com)
  • Ehlers-Danlos syndrome hypermobility type is a connective tissue disorder that predominantly affects the skeletal system. (marfan.org)
  • It is named after French pediatrician Antoine Marfan, who first described it in 1896. (wikipedia.org)
  • Marfan syndrome typically has skeletal, ocular and cardiovascular abnormalities. (arizona.edu)
  • The connective system particularly affects the cardiovascular system, the eyes, the skin and the skeletal system in Marfan syndrome. (medneg.com.au)
  • Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system). (wales.nhs.uk)
  • The Marfan Syndrome (MFS), the most common disorder of connective tissue, is characterized by ocular, cardiovascular, and skeletal abnormalities. (nebraska.edu)
  • What Is Marfan's Syndrome? (carle.org)
  • Marfan's syndrome is an inherited disorder involving the body's connective tissues. (carle.org)
  • How Is Marfan's Syndrome Diagnosed? (carle.org)
  • How Is Marfan's Syndrome Treated? (carle.org)
  • DO get genetic counseling if you have a family history of Marfan's syndrome. (carle.org)
  • In addition she had Marfan's syndrome due to a new mutation and transmitted Marfan's syndrome to one of her daughters who did not have polysyndactyly. (bmj.com)
  • Apparently the association of Marfan's syndrome with polysyndactyly has not been previously described. (bmj.com)
  • Also known as arachnodactyly, Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. (digitalnaturopath.com)
  • Marfan's syndrome is known to be a rare, multisystem disorder of connective tissue typically affecting cardiac, skeletal and ocular system. (nepjol.info)
  • General examination of patient revealed physical features suggestive of Marfan's syndrome. (nepjol.info)
  • Although genetic testing was not possible, all features were suggestive of Marfan's syndrome according to revised Ghent criteria. (nepjol.info)
  • Marfan's syndrome involves the connective tissue, which provides strength and form to the body's structures. (healthline.com)
  • Telescopic aortic arch is a consequence of aortic dissection in Marfan's syndrome, which has not been reported previously. (bezmialem.edu.tr)
  • The Steinberg sign, also known as the thumb sign, is one of the clinical examination tests for Marfan disease in the hands. (wikipedia.org)
  • If you or your child has Marfan syndrome, your clinical team will pass information about you or your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). (wales.nhs.uk)
  • Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinical scenario. (e-roj.org)
  • Clinical manifestations of the syndrome range from aortic root aneurysm with consequent dissection, long bone overgrowth, and ectopia lentis [ 2 ]. (e-roj.org)
  • Note - because of the high degree of variability of the syndrome, many of these clinical characteristics can be present at birth or they can manifest later in childhood. (healthguidenet.com)
  • Loeys-Dietz Syndrome with aortic aneurysm or dissection. (bvsalud.org)
  • Study of the efficacy and safety of losartan versus atenolol for aortic dilation in patients with Marfan syndrome]. (druglib.com)
  • Pravastatin has been reported to reduce aortic dilation in marfan mice. (arizona.edu)
  • A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. (medlineplus.gov)
  • Because connective tissue is found throughout the body, Marfan syndrome can affect many systems, often causing abnormalities in the heart, blood vessels, eyes, bones, and joints. (medlineplus.gov)
  • The health care provider may suspect that the syndrome is present from the family history and a physical examination that shows certain abnormalities. (carle.org)
  • Besides affecting height and limb proportions, people with Marfan syndrome may have abnormal lateral curvature of the spine scoliosis, thoracic lordosis, abnormal indentation (pectus excavatum) or protrusion (pectus carinatum) of the sternum, abnormal joint flexibility, a high-arched palate with crowded teeth and an overbite, flat feet, hammer toes, stooped shoulders, and unexplained stretch marks on the skin. (wikipedia.org)
  • Ehlers-Danlos Syndrome hypermobility type is one of six different types of Ehlers-Danlos syndromes, and it is the most common. (marfan.org)
  • What other names do people use for Ehlers-Danlos syndrome hypermobility type? (marfan.org)
  • What are the characteristics of Ehlers-Danlos syndrome hypermobility type? (marfan.org)
  • How is Ehlers-Danlos syndrome hypermobility type managed? (marfan.org)
  • Find these answers and more in the "Ehlers-Danlos Syndrome Hypermobility Type" download. (marfan.org)
  • There are more than 200 of these conditions, including genetic disorders such as Ehlers-Danlos syndrome, autoimmune disorders such as scleroderma , and cancers such as soft tissue sarcomas . (medicalnewstoday.com)
  • People with Marfan syndrome are at up to 250 times greater risk of aortic dissection (a tear or rupture between layers of the aortic wall) than the general population. (marfan.org)
  • Panzer S, Thompson RC, Hergan K, Zink AR, Piombino-Mascali D. Evidence of aortic dissection and Marfan syndrome in a mummy from the Capuchin Catacombs of Palermo, Sicily . (arizona.edu)
  • The autopsy found that Hyman had suffered from undiagnosed Marfan syndrome, which had caused an aortic dissection that had never been discovered. (tenmania.com)
  • Currently, the standard of care in MFS is to obtain confirmatory molecular diagnostics on patients with the syndrome and their family members, due to the variable expression of MFS and the diagnosable "look-alike" conditions. (medscape.com)
  • However, about 25% of patients with Marfan develop the condition for unknown reasons. (medicalert.org)
  • Study design: A retrospective study based on data collected from members of the Dutch Association of Marfan patients. (eur.nl)
  • A total of 150 subjects diagnosed with Marfan syndrome, aged between 5 and 60 years, of both sexes, and who meet the Ghent diagnostic criteria will be included in the study, with 75 patients per treatment group. (druglib.com)
  • Patients with the Marfan phenotype are usually tall with disproportionately long limbs (dolichostenomelia) and digits (arachnodactyly). (arizona.edu)
  • It isn't known exactly why Marfan syndrome patients grow to be so tall. (medneg.com.au)
  • Marfan syndrome patients cannot engage in heavy athletics and shouldn't do contact sports so the heart is protected. (medneg.com.au)
  • Our case reports presents a review of the literature of patients with Marfan syndrome requiring radiation therapy and the limitations of serum markers on predicting long-term toxicity. (e-roj.org)
  • Subclinical diastolic dysfuntion in patients with preclinical heart failure with preserved ejection fraction (HFpEF) has been demonstrated in patients with Marfan syndrome (MFS). (scipedia.com)
  • NT-proBNP was 70.6 ± 74.8 pg/ml in patients with Marfan syndrome and 58.4 ± 100.3 pg/ml in controls (p = 0.002, Kolmogorov-Smirnov). (scipedia.com)
  • In this meta-analysis , we identified relevant trials of patients with Marfan syndrome by systematically searching MEDLINE , Embase, and CENTRAL from database inception to Nov 2, 2021. (bvsalud.org)
  • Afin de préciser le statut en sélénium à Cotonou les auteurs ont dosé le sélénium plasmatique chez 10 béninoises(âge moyen = 27,1 ans) atteintes de CMPP, chez 18 patients/es atteints/es de CMD (11 femmes,7 hommes, âge moyen = 38,9 ans) et chez 46 béninoises « témoins » en bonne santé ayant accouché récemment (âge moyen = 29,8 ans). (bvsalud.org)
  • In Marfan syndrome, the health of the eye can be affected in many ways, but the principal change is partial lens dislocation, where the lens is shifted out of its normal position. (wikipedia.org)
  • Subluxation (partial dislocation) of the lens can be detected clinically in about 60% of people with Marfan syndrome by the use of a slit-lamp biomicroscope. (wikipedia.org)
  • Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. (wikipedia.org)
  • Marfan syndrome is an inherited disorder that affects connective tissue - the fibers that support and anchor your organs and other structures in your body. (mayoclinic.org)
  • Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. (mayoclinic.org)
  • Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. (mayoclinic.org)
  • Marfan syndrome is a genetic condition that affects the body's connective tissues (i.e., the fibers that bind and support all internal organs and structures). (medicalert.org)
  • Marfan syndrome is a genetic disorder that affects the body's connective tissue. (positiveexposure.org)
  • As Marfan syndrome affects several different parts of the body, you'll be treated by a team of different healthcare professionals. (wales.nhs.uk)
  • According to the Marfan Foundation, this genetic disorder affects the body's connective tissue, which helps hold the cells, organs, and tissues together. (tenmania.com)
  • Marfan syndrome is an inherited disease that affects the body's connective tissue, which provides support, strength, and elasticity to blood vessels, cartilage, heart valves, tendons, and other important parts of the physical body. (healthguidenet.com)
  • Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA. The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3 . (arizona.edu)
  • Someone with Marfan syndrome may have several distinct physical characteristics. (wales.nhs.uk)
  • If you have Marfan syndrome, you need to take prophylactic antibiotics before dental procedures so you can avoid bacterial endocarditis. (medneg.com.au)
  • Many people with Marfan syndrome grow to above-average height, and some have disproportionately long, slender limbs with thin, weak wrists and long fingers and toes. (wikipedia.org)
  • People with Marfan sydrome tend to be taller and thinner than average with disproportionately long fingers and limbs. (nih.gov)
  • Some people with Marfan have speech disorders resulting from symptomatic high palates and small jaws. (wikipedia.org)
  • Although Marfan syndrome is rare, affecting about 1 in 5,000 people in the UK, it's one of the most common connective tissue disorders. (wales.nhs.uk)
  • This original and unexpected finding of linkage between distinct fibrillin genes and phenotypically related syndromes implies that defects in these newly discovered matrix components are the cause of this rather common group of connective tissue disorders. (nebraska.edu)
  • People who have KS have an increased risk for autoimmune disorders, like - rheumatoid arthritis, lupus, and Sjogren's syndrome. (healthguidenet.com)
  • People who have Marfan syndrome typically have especially long fingers. (mayoclinic.org)
  • Pregnancies and neonatal outcomes of affected mothers were compared with those of non-affected mothers who delivered a Marfan infant. (eur.nl)
  • occurs more frequently in people with Marfan syndrome than in those without the condition. (medlineplus.gov)
  • People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes. (mayoclinic.org)
  • MedicAlert's protection plans offer benefits that extend beyond the ID, providing safety and peace of mind for people living with Marfan syndrome, their families and caregivers. (medicalert.org)
  • Marfan syndrome is a rare disorder affecting approximately 200,000 people in the United States, including men and women of all races and ethnic groups. (medicalert.org)
  • People with Marfan syndrome also have a higher risk of developing eye problems that could require surgical intervention, like cataracts. (medicalert.org)
  • However, most people living with Marfan syndrome can and should engage in regular low-intensity physical exercise. (medicalert.org)
  • People with Marfan syndrome have increased risk of glaucoma, cataract, and high myopia. (nih.gov)
  • Many people with the Marfan syndrome can participate in modified physical and recreational activities without being overly concerned. (digitalnaturopath.com)
  • People with Marfan syndrome tend to be tall and slender with long limbs, fingers, and toes. (medicalnewstoday.com)
  • People with Marfan syndrome may be more prone to aortic aneurysms . (medicalnewstoday.com)
  • People with Down Syndrome (DS) have an excess of genetic material in their cells. (cshl.edu)
  • The vast majority of people with this syndrome have an extra copy of chromosome 21. (cshl.edu)
  • Many people around the world live with Marfan syndrome every day. (tenmania.com)
  • There are some notable examples of famous people with Marfan syndrome that have overcome the obstacles that this genetic disorder poses and have reached their dreams despite their health issues. (tenmania.com)
  • To help give you a motivation boost for your next personal challenge, we thought it would be a good idea to share some of the most inspiring stories of famous people with Marfan syndrome that didn't take no for an answer. (tenmania.com)
  • People that are born with this syndrome may also suffer physical changes in their appearance. (tenmania.com)
  • Despite the issues that that can affect individuals born with this genetic disorder, history has shown us that there have been many famous people with Marfan syndrome that have overcome substantial challenges and reached their goals. (tenmania.com)
  • Here are the top 10 famous people with Marfan syndrome that have impressed us with their unique stories, abilities, and achievements. (tenmania.com)
  • People with Marfan syndrome tend to be tall and thin with long arms and legs. (alike.health)
  • In people with Marfan syndrome and no previous aortic surgery , ARBs reduced the rate of increase of the aortic root Z score by about one half, including among those taking a ß blocker. (bvsalud.org)
  • Individuals with Marfan syndrome are usually tall and slender, have elongated fingers and toes (arachnodactyly), loose joints, and have an arm span that exceeds their body height. (medlineplus.gov)
  • These mice provide a useful model for testing new therapies for Marfan syndrome," said Bassnett. (nih.gov)
  • 2022). Male Marfan mice are predisposed to high fat diet induced obesity, diabetes, and fatty liver. (mcgill.ca)
  • Together, these studies will establish the framework for understanding how altered fibrillin metabolism translates into the phenotypic spectrum of MFS and related syndromes. (nebraska.edu)
  • Most individuals with Marfan syndrome have some degree of nearsightedness ( myopia ). (medlineplus.gov)
  • The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. (medlineplus.gov)
  • Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. (wales.nhs.uk)
  • The damage caused by Marfan syndrome can be mild or severe. (mayoclinic.org)
  • He suffers from a severe form of Scoliosis, a progressive spinal deformity that requires immediate surgery, and Marfan Syndrome, a connective tiss. (niacouncil.org)