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Congenital contractural arachnodactyly
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Reviewed July 2013
What is congenital contractural arachnodactyly?
Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. 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). 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). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.
A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.
How common is congenital contractural arachnodactyly?
The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide.
What genes are related to congenital contractural arachnodactyly?
Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. Additionally, microfibrils regulate the activity of molecules called growth factors. Growth factors enable the growth and repair of tissues throughout the body.
Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of a protein with impaired function. As a result, microfibril formation is reduced, which probably weakens the structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly.
Read more about the FBN2 gene.
How do people inherit congenital contractural arachnodactyly?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Where can I find information about diagnosis or management of congenital contractural arachnodactyly?
These resources address the diagnosis or management of congenital contractural arachnodactyly and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about congenital contractural arachnodactyly?
You may find the following resources about congenital contractural arachnodactyly helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for congenital contractural arachnodactyly?
What if I still have specific questions about congenital contractural arachnodactyly?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding congenital contractural arachnodactyly?
arachnodactyly ; autosomal ; autosomal dominant ; camptodactyly ; cell ; congenital ; connective tissue ; digestive ; digestive system ; dilatation ; distal ; dolichostenomelia ; gene ; growth factor ; inherited ; kyphoscoliosis ; microfibrils ; mitral valve ; mitral valve prolapse ; mutation ; prevalence ; protein ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (5 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.