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)
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)
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)