An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes.
Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint.
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 group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
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.
A characteristic symptom complex.
The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions.
Postmortem examination of the body.
Refers to the whole process of grieving and mourning and is associated with a deep sense of loss and sadness.
Physicians appointed to investigate all cases of sudden or violent death.
The application of pathology to questions of law.
Factors which produce cessation of all vital bodily functions. They can be analyzed from an epidemiologic viewpoint.
The terms, expressions, designations, or symbols used in a particular science, discipline, or specialized subject area.

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.

... ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and ... It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on ... Retrieved 4 August 2020.[permanent dead link] Wikimedia Commons has media related to Arachnodactyly. v t e (All articles with ... It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly ...
... (CCA), also known as Beals-Hecht syndrome, is a rare autosomal dominant congenital ... Congenital contractural arachnodactyly in cattle NIH Genetic and Rare Diseases Information Center (GARD) (2017-01-31). " ... "Congenital contractural arachnodactyly". Genetics Home Reference. 2013. Retrieved 2018-04-18. Tunçbilek, Ergül; Alanay, Yasemin ... "Congenital contractural arachnodactyly". Genetic Testing Registry. Retrieved 2018-04-18. (Articles with short description, ...
... is a rare multi-systemic genetic disorder of unknown prevalence ... "Cryptorchidism-arachnodactyly-intellectual disability syndrome (Concept Id: C4707233) - MedGen - NCBI". www.ncbi.nlm.nih.gov. ... "Orphanet: Cryptorchidism arachnodactyly intellectual disability syndrome". www.orpha.net. Retrieved 2022-05-30. "Van Benthem- ... arachnodactyly, cryptorchidism, hypospadias, and testicular agenesis. No new cases have been reported since 1970. RESERVED, ...
Congenital contractural arachnodactyly (CA), also known as fawn calf syndrome, is an autosomal recessive genetic disorder in ... Denholm, Laurence (May 2010). "Congenital contractural arachnodactyly in Angus cattle" (PDF). No. PRIMEFACT 1015. NSW ... cite magazine}}: Cite magazine requires ,magazine= (help) "OMIA 001511-9913 : Contractural arachnodactyly (Fawn calf syndrome) ... "Mapping of congenital contractural arachnodactyly in cattle" (PDF). Association for the Advancement of Animal Breeding and ...
Congenital contractural arachnodactyly - also known as Beals syndrome. It is akin to Marfan syndrome but with contractures of ... "Congenital contractural arachnodactyly". Genetics Home Reference. Retrieved 2019-11-19. Reference, Genetics Home. "Loeys-Dietz ...
TBX1 Contractural arachnodactyly, congenital; 121050; FBN2 Convulsions, benign familial infantile, 3; 607745; SCN2A1 ...
... is a syndrome consisting of arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet ... PARISH JG (1960). "Skeletal syndromes associated with arachnodactyly". Proceedings of the Royal Society of Medicine. 53: 515-8 ...
Arachnodactyly Schachner, Lawrence A.; Hansen, Ronald C. (2011). Pediatric Dermatology E-Book. Elsevier Health Sciences. p. 401 ...
Other variants may include syndactyly or arachnodactyly. Forefoot shape, including toe shape, exhibits significant variation ...
Arachnodactyly Dolichostenomelia Marfan syndrome Ehlers-Danlos syndromes Cohen, Philip R.; Milewicz, Dianna McGookey (April ... it often appears alongside arachnodactyly and/or dolichostenomelia, which is the condition of having long and slender fingers ...
described Turkish family with dominantly-inherited blindness, scoliosis and arachnodactyly. Two brothers with abnormal ... blindness and arachnodactyly in a large Turkish family: is it a new syndrome?". Genetic Counseling (Geneva, Switzerland). 19 (3 ... Scoliosis and Arachnodactyly Syndrome 2008 Multiple Congenital Abnormalities and Mental Retardation 2012 All syndromes are in ... ", "Scoliosis, Blindness and Arachnodactyly Syndrome" and "Multiple Congenital Abnormalities and Mental Retardation Syndrome". ...
"Congenital contractural arachnodactyly ('fawn calf syndrome') in Angus cattle" (PDF). NSW Department of Trade and Investment ... contractural arachnodactyly (CA), formerly referred to by the name of "fawn calf syndrome", which reduces mobility in the hips ...
Shprintzen, RJ; Goldberg, R (1982). "A recurrent pattern syndrome of craniosynostosis associated with arachnodactyly and ... arachnodactyly, long limbs, and a chest which appears to sink in or stick out. Other symptoms that may be experienced include ...
... not unlike arachnodactyly) with joint hyperextensibility, shortened halluces (the big toes) and long second toes. The diagnosis ... "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal ...
... (also known as "palmoplantar keratoderma with periodontitis and arachnodactyly, acro-osteolysis and Cochin ... Haim, S.; Munk, J. (January 1965). "Keratosis palmo-plantaris congenita, with periodontosis, arachnodactyly and a peculiar ... arachnodactyly), and osteolysis involving the distal phalanges of fingers and toes (acro-osteolysis). Permanent flexion ...
Similar or related medical conditions are arachnodactyly, aminoaciduria, congenital cataracts, cerebellar ataxia, and delayed ...
... arachnodactyly; positive Steinberg finger / Walker wrist signs). Abnormal skin: striae, hyperextensibility, thin skin, ...
... and arachnodactyly". Human Mutation. 35 (8): 959-963. doi:10.1002/humu.22597. ISSN 1098-1004. PMID 24864036. S2CID 22570252. " ...
March 2009). "Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: ...
... arachnodactyly and disordered steroidogenesis. However, the clinical and biochemical characteristics of patients with POR ...
The first case of this was in 1966 a female infant was diagnosed with blepharophimosis, joint contractures, arachnodactyly and ... It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly ... arachnodactyly, chest deformation as pectus, kyphoscoliosis and absent deep tendon reflexes are frequent minor malformations ...
Other symptoms, such as cardiac malformations, proptotic exophthalmos (bulging eyes), arachnodactyly (spider-like fingers) as ...
... arachnodactyly), unusually long limbs, and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum). It can be ...
... was affected by a condition known as congenital contractural arachnodactyly, and not Marfan's syndrome. Further eponymous ...
Continuous muscle fiber activity hereditary Continuous spike-wave during slow sleep syndrome Contractural arachnodactyly ... shunt Congenital central hypoventilation syndrome Congenital constricting band Congenital contractural arachnodactyly ... Cryptomicrotia brachydactyly syndrome Cryptophthalmos-syndactyly syndrome Cryptosporidiosis Cryptorchidism arachnodactyly ...
... palmoplantar keratoderma with periodontitis and arachnodactyly and acro-osteolysis) Hidrotic ectodermal dysplasia (alopecia ...
Mental retardation m Mental retardation anophthalmia craniosynostosis Mental retardation arachnodactyly hypotonia ... cataracts calcified pinnae myopathy Mental retardation coloboma slimness Mental retardation contractural arachnodactyly Mental ...
... and arachnodactyly. The homozygous mutation K101N and a de novo 16q24.1 interstitial duplication have been found to cause ...
... arachnodactyly, and/or, less commonly, kidney, genitourinary and various vascular and cardiac anomalies. The syndrome is caused ...
Coffin-Siris syndrome Complete trisomy 21 syndrome Complex lethal osteochondrodysplasia Congenital contractural arachnodactyly ...
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and ... It is also seen in congenital contractural arachnodactyly, which is caused by mutation in the gene encoding fibrillin-2 on ... Retrieved 4 August 2020.[permanent dead link] Wikimedia Commons has media related to Arachnodactyly. v t e (All articles with ... It remains unconfirmed whether composer Sergei Rachmaninoffs abnormally large reach on a piano was a result of arachnodactyly ...
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. Explore symptoms, inheritance, ... Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically ... Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the ... Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that ...
... On-line free medical diagnosis assistant. Ranked list of possible diseases from either several symptoms or a ... arachnodactyly can include feet and toes. arachnodactyly has been associated with several gene mutations and syndromes. ... Ranked list of diseases related to "arachnodactyly"Drugs, active principles and "arachnodactyly"Medicinal plantsQuestions and ... Arachnodactyly. An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the ...
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare genetic disorder caused by a mutation in the gene ... Arachnodactyly (long, thin fingers and toes). -Intellectual disability. -Delayed development. -Speech and language delays. - ... Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare genetic disorder characterized by the presence of ... The mutation in this gene can lead to a variety of symptoms, including cryptorchidism (undescended testicles), arachnodactyly ( ...
Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, ... mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is severe CCA ... arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal ... Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. ...
A variant of the fibrillin-2 gene, FBN2, causes congenital contractural arachnodactyly, known as Beals syndrome. [12] ...
Arachnodactyly. Ataxia. Bone abnormalities (e.g., dysostosis, occipital horns, punctuate calcifications). "Coarse" appearance. ...
Long, thin fingers (arachnodactyly). Protruded or caved in chest (pectus carinatum or pectus excavatum). Flat feet (Pes planus) ... scoliosis and arachnodactyly. However, individuals with LDS more often have widely spaced eyes, cleft palate/bifid uvula, ...
At autopsy, the man had pectus carinatum and arachnodactyly. Internally, he had massive hemopericardium from rupture of a large ... At autopsy, the man had pectus carinatum and arachnodactyly. Internally, he had massive hemopericardium from rupture of a large ...
A clinical scoring system for congenital contractural arachnodactyly Ilse Meerschaut (UGent) , Shana De Coninck, Wouter ...
OMIM:121050: Contractural arachnodactyly, congenital. Vitamin K-dependent protein S (P07225) (SMART). OMIM:176880: Protein S ...
OMIM:121050: Contractural arachnodactyly, congenital. Vitamin K-dependent protein S (P07225) (SMART). OMIM:176880: Protein S ...
Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel ...
Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature toddler. Detectable symptoms in ...
Marfan syndrome - look for arachnodactyly, pectus excavatum or carinatum, and arm span greater than height; family history ...
... and arachnodactyly). The variant arose on two founder haplotypes and results in significantly reduced EMC10 RNA expression and ...
The 5 subjects with MVP and arachnodactyly had lower weights, smaller body surface areas and smaller aortic root dimensions, ... and were more likely to have scoliosis than subjects with MVP without arachnodactyly. Thus, primary MVP differs from the Marfan ... upper/lower segment ratio and prevalences of arachnodactyly, scoliosis and pectus carinatum. Subjects with mitral prolapse and ...
... arachnodactyly), unusually long limbs, and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum).[5] It can ...
All seven individuals with the I1048T substitution had mitral insufficiency, arachnodactyly and characteristic facies ...
Arachnodactyly, Contractural Beals TypeContractural Beals Type Arachnodactyly happens a inevitably other nummular book age ...
Also known as arachnodactyly, Marfans syndrome is a rare hereditary disorder that causes connective tissue to be weaker than ... Also known as arachnodactyly, Marfans syndrome is a rare hereditary disorder that causes connective tissue to be weaker than ...
... contractual arachnodactyly (CA), or "fawn calf syndrome," which affects the mobility of the hips below the hock. ...
... and mutations inFBN2 have been shown to cause a phenotypically related disorder termed congenital contractural arachnodactyly. ...
Joint hyperlaxity, arachnodactyly, pecus excavatum or carinatum, scoliosis and contractures of the feet (talipes equinovarus) ...
O Arachnodactyly,O Arachnoid cyst,O Arachnoid hemangiomatosis,O Archibalds sign,O Arcuate scotoma,O Areas of hypopigmentation ...
congenital contractural arachnodactyly congenital diaphragmatic hernia + congenital diarrhea + congenital disorder of ...
  • 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)
  • 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)
  • 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 arachnodactyly (CA), or "fawn calf syndrome," which affects the mobility of the hips below the hock. (montsec.info)
  • Also known as arachnodactyly, Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. (digitalnaturopath.com)
  • arachnodactyly has been associated with several gene mutations and syndromes. (lookfordiagnosis.com)
  • 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)
  • 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)
  • Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity and clubfoot, feeding difficulties, failure to thrive. (cdc.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • Clinical signs include brachycephaly, arachnodactyly, receding mandible and joint laxity at the hands and feet. (nih.gov)
  • 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)
  • The bundled and pejorative term arachnodactyly is replaced by the separate descriptors Long finger and Slender finger. (nih.gov)
  • 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)