Arachnodactyly
Contracture
Marfan Syndrome
Renal Aminoacidurias
Connective Tissue Diseases
Microfilament Proteins
Death, Sudden
Bereavement
Coroners and Medical Examiners
Cause of Death
Congenital contractural arachnodactyly (Beals syndrome). (1/4)
Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. It is caused by a mutation in FBN2 gene on chromosome 5q23. Although the clinical features can be similar to Marfan syndrome (MFS), multiple joint contractures (especially elbow, knee and finger joints), and crumpled ears in the absence of significant aortic root dilatation are characteristic of Beals syndrome and rarely found in Marfan syndrome. The incidence of CCA is unknown and its prevalence is difficult to estimate considering the overlap in phenotype with MFS; the number of patients reported has increased following the identification of FBN2 mutation. Molecular prenatal diagnosis is possible. Ultrasound imaging may be used to demonstrate joint contractures and hypokinesia in suspected cases. Management of children with CCA is symptomatic. Spontaneous improvement in camptodactyly and contractures is observed but residual camptodactyly always remains. Early intervention for scoliosis can prevent morbidity later in life. Cardiac evaluation and ophthalmologic evaluations are recommended. (+info)Severe acute respiratory failure secondary to acute fibrinous and organizing pneumonia requiring mechanical ventilation: a case report and literature review. (2/4)
(+info)Mutations in the TGF-beta repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. (3/4)
(+info)In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. (4/4)
(+info)Arachnodactyly is a medical term that describes an abnormal condition where an individual has unusually long and slender fingers or toes, often described as being "spider-like" in appearance. This condition can be present at birth (congenital) or develop later in life due to various underlying causes such as Marfan syndrome, Ehlers-Danlos syndrome, or other connective tissue disorders.
In a person with arachnodactyly, the fingers or toes may be so long that they curve and overlap each other, and the skin around the nails may appear thin and stretched. In some cases, arachnodactyly can also affect the length and slenderness of the bones in the arms, legs, and spine.
It is important to note that while arachnodactyly itself is not a disease, it can be a sign of an underlying medical condition that requires further evaluation and treatment.
A contracture, in a medical context, refers to the abnormal shortening and hardening of muscles, tendons, or other tissue, which can result in limited mobility and deformity of joints. This condition can occur due to various reasons such as injury, prolonged immobilization, scarring, neurological disorders, or genetic conditions.
Contractures can cause significant impairment in daily activities and quality of life, making it difficult for individuals to perform routine tasks like dressing, bathing, or walking. Treatment options may include physical therapy, splinting, casting, medications, surgery, or a combination of these approaches, depending on the severity and underlying cause of the contracture.
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.
Renal aminoacidurias are a group of inherited kidney disorders characterized by the abnormal excretion of amino acids in the urine (aminoaciduria). This condition results from defects in the renal tubular transport systems that are responsible for the reabsorption of amino acids from the filtrate in the kidneys.
There are several types of renal aminoacidurias, each associated with a specific genetic mutation affecting different transporter proteins in the proximal renal tubules. The most common type is cystinuria, which is caused by a defect in the transport system for four amino acids: cystine, ornithine, lysine, and arginine. Other types of renal aminoacidurias include Hartnup disorder, Lowe syndrome, and Dent disease, among others.
The clinical manifestations of renal aminoacidurias vary depending on the specific type and severity of the disorder. Some individuals may be asymptomatic or have only mild symptoms, while others may experience severe complications such as kidney stones, urinary tract infections, neurological symptoms, or growth retardation.
Treatment for renal aminoacidurias typically involves dietary modifications, increased fluid intake, and medications to reduce the risk of kidney stone formation and other complications. In some cases, surgery may be necessary to remove large kidney stones.
Connective tissue diseases (CTDs) are a group of disorders that involve the abnormal production and accumulation of abnormal connective tissues in various parts of the body. Connective tissues are the structural materials that support and bind other tissues and organs together. They include tendons, ligaments, cartilage, fat, and the material that fills the spaces between cells, called the extracellular matrix.
Connective tissue diseases can affect many different systems in the body, including the skin, joints, muscles, lungs, kidneys, gastrointestinal tract, and blood vessels. Some CTDs are autoimmune disorders, meaning that the immune system mistakenly attacks healthy connective tissues. Others may be caused by genetic mutations or environmental factors.
Some examples of connective tissue diseases include:
* Systemic lupus erythematosus (SLE)
* Rheumatoid arthritis (RA)
* Scleroderma
* Dermatomyositis/Polymyositis
* Mixed Connective Tissue Disease (MCTD)
* Sjogren's syndrome
* Ehlers-Danlos syndrome
* Marfan syndrome
* Osteogenesis imperfecta
The specific symptoms and treatment of connective tissue diseases vary depending on the type and severity of the condition. Treatment may include medications to reduce inflammation, suppress the immune system, or manage pain. In some cases, surgery may be necessary to repair or replace damaged tissues or organs.
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.
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.
Sudden death is a term used to describe a situation where a person dies abruptly and unexpectedly, often within minutes to hours of the onset of symptoms. It is typically caused by cardiac or respiratory arrest, which can be brought on by various medical conditions such as heart disease, stroke, severe infections, drug overdose, or trauma. In some cases, the exact cause of sudden death may remain unknown even after a thorough post-mortem examination.
It is important to note that sudden death should not be confused with "sudden cardiac death," which specifically refers to deaths caused by the abrupt loss of heart function (cardiac arrest). Sudden cardiac death is often related to underlying heart conditions such as coronary artery disease, cardiomyopathy, or electrical abnormalities in the heart.
An autopsy, also known as a post-mortem examination or obduction, is a medical procedure in which a qualified professional (usually a pathologist) examines a deceased person's body to determine the cause and manner of death. This process may involve various investigative techniques, such as incisions to study internal organs, tissue sampling, microscopic examination, toxicology testing, and other laboratory analyses. The primary purpose of an autopsy is to gather objective evidence about the medical conditions and factors contributing to the individual's demise, which can be essential for legal, insurance, or public health purposes. Additionally, autopsies can provide valuable insights into disease processes and aid in advancing medical knowledge.
Bereavement is the state of loss or grief experienced when a person experiences the death of a loved one, friend, or family member. It is a normal response to the death of someone close and can involve a range of emotions such as sadness, anger, guilt, and anxiety. The grieving process can be different for everyone and can take time to work through. Professional support may be sought to help cope with the loss.
A coroner and medical examiner are officials in the legal system who are responsible for investigating and determining the cause of death in certain cases. While their roles can overlap, there are some differences between them.
A coroner is a public official who is typically appointed or elected to serve in a particular jurisdiction, such as a county or district. The coroner's primary responsibility is to investigate any sudden, unexpected, or suspicious deaths that occur within their jurisdiction. This may include deaths that occur due to violence, accidents, suicide, or unknown causes.
In order to determine the cause of death, the coroner may conduct an autopsy, order toxicology tests, and review medical records and other evidence. The coroner may also hold an inquest, which is a formal hearing in which witnesses are called to testify about the circumstances surrounding the death. Based on the evidence gathered during the investigation, the coroner will make a determination as to the cause and manner of death.
A medical examiner, on the other hand, is a physician who has completed specialized training in forensic pathology. Medical examiners are typically appointed or hired by a government agency, such as a state or county, to perform autopsies and investigate deaths.
Medical examiners are responsible for determining the cause of death in cases where there is a suspicion of foul play, as well as in other circumstances where the cause of death may not be immediately apparent. They may also testify in court as expert witnesses based on their findings.
In some jurisdictions, the roles of coroner and medical examiner are combined, with the official serving as both a public administrator and a trained physician. In other cases, the two roles are separate, with the coroner responsible for administrative functions and the medical examiner responsible for determining the cause of death.
Forensic pathology is a subspecialty of pathology that focuses on determining the cause and manner of death by examining a corpse. It involves applying scientific knowledge and techniques to investigate criminal or suspicious deaths, often in conjunction with law enforcement agencies. A forensic pathologist performs autopsies (postmortem examinations) to evaluate internal and external injuries, diseases, and other conditions that may have contributed to the individual's death. They also collect evidence such as tissue samples, which can be used for toxicological, microbiological, or histological analysis. The information gathered by forensic pathologists is crucial in helping to establish the facts surrounding a person's death and assisting legal proceedings.
The "cause of death" is a medical determination of the disease, injury, or event that directly results in a person's death. This information is typically documented on a death certificate and may be used for public health surveillance, research, and legal purposes. The cause of death is usually determined by a physician based on their clinical judgment and any available medical evidence, such as laboratory test results, autopsy findings, or eyewitness accounts. In some cases, the cause of death may be uncertain or unknown, and the death may be classified as "natural," "accidental," "homicide," or "suicide" based on the available information.
"Terminology as a topic" in the context of medical education and practice refers to the study and use of specialized language and terms within the field of medicine. This includes understanding the meaning, origins, and appropriate usage of medical terminology in order to effectively communicate among healthcare professionals and with patients. It may also involve studying the evolution and cultural significance of medical terminology. The importance of "terminology as a topic" lies in promoting clear and accurate communication, which is essential for providing safe and effective patient care.
Arachnodactyly
Congenital contractural arachnodactyly
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Congenital contractural arachnodactyly in cattle
Connective tissue disease
List of OMIM disorder codes
Achard syndrome
Dolichostenomelia
Toe
Dolichonychia
Munis Dundar
Aberdeen Angus
Shprintzen-Goldberg syndrome
Lujan-Fryns syndrome
Haim-Munk syndrome
Bhaskar-Jagannathan syndrome
Hypermobility (joints)
Camptodactyly, tall stature, and hearing loss syndrome
Camptodactyly
Cytochrome P450 reductase
Marden-Walker syndrome
Antley-Bixler syndrome
Ehlers-Danlos syndromes
Antoine Marfan
List of diseases (C)
List of skin conditions
List of diseases (M)
COX4I1
Small supernumerary marker chromosome
Brachycephaly
Arachnodactyly - Wikipedia
Congenital contractural arachnodactyly: MedlinePlus Genetics
Arachnodactyly
Condition Cryptorchidism-arachnodactyly-intellectual Disability Syndrome
Congenital contractural arachnodactyly (Concept Id: C0220668) - MedGen - NCBI
Genetics of Marfan Syndrome: Practice Essentials, Pathophysiology, Epidemiology
AAP Releases Guidelines on Clinical Evaluation of the Child with Mental Retardation or Developmental Delays | AAFP
Loeys-Dietz Syndrome - Symptoms, Causes, Treatment | NORD
Pathology of Sudden Natural Death: Overview, Terminology, Medical Examiner Role and Autopsy Indications
Wouter Steyaert
Aortopathy and connective tissue genes | Royal Brompton & Harefield hospitals
SMART: EGF CA domain annotation
SMART: EGF CA domain annotation
Landgren M[au] - Search Results - PubMed
Baby’s Pregnancy Calendar
Takayasu arteritis
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures...
PDF) Isolated mitral valve prolapse is an independent predictor of aortic root size in a general population
Ehlers-Danlos syndromes - Wikipedia
Daniel Murphy's Profile | Stanford Profiles
Book Age Related Macular Degeneration 2013
Marfan's Syndrome - Digital Naturopath
Lessons Learned About - Mont Sec
The molecular genetics of Marfan syndrome and related microfibrillopathies | Journal of Medical Genetics
Aromatase excess syndrome (AES): Symptoms, Diagnosis and Treatment - Symptoma
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Contractural13
- It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on chromosome 5q23. (wikipedia.org)
- Congenital contractural arachnodactyly is a disorder that affects many parts of the body. (medlineplus.gov)
- Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). (medlineplus.gov)
- The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened. (medlineplus.gov)
- The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide. (medlineplus.gov)
- Mutations in the FBN2 gene cause congenital contractural arachnodactyly. (medlineplus.gov)
- The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly. (medlineplus.gov)
- Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. (medlineplus.gov)
- FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. (medlineplus.gov)
- Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. (nih.gov)
- Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). (nih.gov)
- Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). (nih.gov)
- The gene for fibrillin-2 ( FBN2 ) is highly homologous to FBN1 , and mutations in FBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly. (bmj.com)
Scoliosis2
- At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. (nih.gov)
- Joint hyperlaxity, arachnodactyly , pecus excavatum or carinatum, scoliosis and contractures of the feet (talipes equinovarus) are seen in LDS patients, and are also common in Marfan syndrome. (symptoma.com)
Contractures1
- At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. (nih.gov)
Contractual arachnodactyly1
- contractual arachnodactyly (CA), or "fawn calf syndrome," which affects the mobility of the hips below the hock. (montsec.info)
Marfan's1
- Also known as arachnodactyly, Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. (digitalnaturopath.com)
Mutations1
- arachnodactyly has been associated with several gene mutations and syndromes. (lookfordiagnosis.com)
Genetic2
- Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare genetic disorder characterized by the presence of cryptorchidism (undescended testes), arachnodactyly (spider-like fingers and toes), and intellectual disability. (rarediseaseshealthcenter.com)
- Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare genetic disorder caused by a mutation in the gene known as the GATA2 gene. (rarediseaseshealthcenter.com)
Toes4
- Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. (wikipedia.org)
- People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). (medlineplus.gov)
- arachnodactyly can include feet and toes . (lookfordiagnosis.com)
- The mutation in this gene can lead to a variety of symptoms, including cryptorchidism (undescended testicles), arachnodactyly (long, thin fingers and toes), and intellectual disability. (rarediseaseshealthcenter.com)
Hyperlaxity1
- Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive. (cdc.gov)
Syndrome5
- It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. (wikipedia.org)
- What are the symptoms of Cryptorchidism-arachnodactyly-intellectual disability syndrome? (rarediseaseshealthcenter.com)
- What are the causes of Cryptorchidism-arachnodactyly-intellectual disability syndrome? (rarediseaseshealthcenter.com)
- What are the treatments for Cryptorchidism-arachnodactyly-intellectual disability syndrome? (rarediseaseshealthcenter.com)
- Unfortunately, there is no known cure for Cryptorchidism-arachnodactyly-intellectual disability syndrome. (rarediseaseshealthcenter.com)
Distal1
- Arachnodactyly (disproportionately long, thin digits) is noticeable, often by the thumb sign (the distal phalanx of the thumb protrudes beyond the edge of the clenched fist). (msdmanuals.com)
Genes1
- Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)
Features1
- A homozygous variant EMC10 c.287delG (Refseq NM_206538.3, p.Gly96Alafs*9) segregated with affected individuals in each family, who exhibited a phenotypic spectrum of intellectual disability (ID) and global developmental delay (GDD), variable seizures and variable dysmorphic features (elongated face, curly hair, cubitus valgus, and arachnodactyly). (nih.gov)
Fingers7
- Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. (wikipedia.org)
- Arachnodactyly is a condition in which the fingers are long, slender, and curved. (medlineplus.gov)
- People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). (nih.gov)
- Abnormally long, slender fingers and toes (arachnodactyly) are another typical findings in such patients. (symptoma.com)
- People with Marfan syndrome are often tall with long, thin arms and legs and spider-like fingers (called arachnodactyly). (nih.gov)
- People with Marfan syndrome are usually tall and relatively thin, having long fingers and toes (arachnodactyly) and usually exhibit scoliosis. (intergenetics.eu)
- There are at least five different types of Loeys-Dietz syndrome, who all exhibit common clinical features comprising of cardiac and skeletal malformations, such as aortic aneurysms, mitral valve prolapse or aortic valve insufficiency, long fingers and toes (arachnodactyly) and may also be accompanied by scoliosis and other constitutive anomalies. (intergenetics.eu)
Marfan3
- It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. (wikipedia.org)
- El síndrome de Marfan (tipo 1) se asocia a mutaciones en el gen que codifica la FIBRILINA-1 (FBN-1), un elemento principal de las microfibrillas extracelulares del tejido conjuntivo. (bvsalud.org)
- Las mutaciones en el gen que codifica el RECEPTOR DE TIPO II DEL FACTOR DE CRECIMIENTO TRANSFORMANTE BETA se asocian al síndrome de Marfan de tipo 2. (bvsalud.org)
Joint laxity1
- Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. (nih.gov)
Camptodactyly1
- Other common features are kyphoscoliosis, pectus excavatum or carinatum, limited motor function in the shoulder, elbow and wrist joints and arachnodactyly and camptodactyly. (orpha.net)
Slender1
- The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long finger and Slender finger. (nih.gov)
Long1
- Arachnodactyly (disproportionately long, thin digits) is noticeable, often by the thumb sign (the distal phalanx of the thumb protrudes beyond the edge of the clenched fist). (msdmanuals.com)