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Congenital contractural arachnodactyly
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Reviewed February 2008
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 and slender with long limbs (dolichostenomelia), and have long, slender fingers and toes (arachnodactyly); joint deformities (contractures) that restrict movement; and a "crumpled" look to their ears. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, abnormal curvature of the spine (scoliosis), permanently bent fingers and toes (camptodactyly), and a protruding chest (pectus carinatum). Occasionally, people with this condition have heart problems, such as enlargement of the blood vessel that distributes blood from the heart to the rest of the body (dilatation of the aorta) or leaks in one of the valves that control blood flow through the heart (mitral valve regurgitation).
A rare, severe form of congenital contractural arachnodactyly involves heart and digestive system abnormalities in addition to the typical features seen in this condition; those affected typically do not live past infancy.
How common is congenital contractural arachnodactyly?
The incidence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000.
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. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN2 gene can reduce the amount and/or quality of fibrillin-2 that is available to form microfibrils. As a result, decreased microfibril formation probably weakens the elastic fibers and allows growth factors to be released inappropriately, causing tall stature, deformities of the fingers and toes, and other characteristic features 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?
aorta ; arachnodactyly ; autosomal ; autosomal dominant ; camptodactyly ; cell ; congenital ; connective tissue ; digestive ; digestive system ; dilatation ; dolichostenomelia ; elastic ; gene ; incidence ; joint ; microfibrils ; mitral valve ; mutation ; protein ; scoliosis ; stature ; syndrome ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (4 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.