Congenital contractural arachnodactyly
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.
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 treatment for congenital contractural arachnodactyly?
You may find information on treatment or management of congenital contractural arachnodactyly or some of its symptoms in the links below, particularly the links for
Gene Reviews, MedlinePlus Encyclopedia, Educational resources, and Patient support.
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.
- MedlinePlus - Health information
- Encyclopedia: Arachnodactyly (http://www.nlm.nih.gov/medlineplus/ency/article/003288.htm)
- Encyclopedia: Contracture Deformity (http://www.nlm.nih.gov/medlineplus/ency/article/003185.htm)
- Encyclopedia: Skeletal Limb Abnormalities (http://www.nlm.nih.gov/medlineplus/ency/article/003170.htm)
- Health Topic: Connective Tissue Disorders (http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html)
- Health Topic: Muscle Disorders (http://www.nlm.nih.gov/medlineplus/muscledisorders.html)
- Educational resources - Information pages
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=115)
- University of Texas Medical School (http://www.uth.tmc.edu/schools/med/imed/divisions/medical-genetics/beals-syndrome.html)
- Patient support - For patients and families
- CLIMB: Children Living with Inherited Metabolic Diseases (http://www.climb.org.uk/)
- Madisons Foundation: Beals syndrome (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,554/)
- Madisons Foundation: Congenital Contractual Arachnodactyly (http://www.madisonsfoundation.org/index.php/component/option,com_mpower/diseaseID,443/)
- National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Beals+Syndrome)
- The National Marfan Foundation: Beals syndrome (http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=86)
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?
- Beals-Hecht syndrome
- Beals syndrome
- CCA
- contractural arachnodactyly, congenital
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What if I still have specific questions about congenital contractural arachnodactyly?
- See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
- Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
- Submit your question to Ask the Geneticist (http://www.askthegen.org/).
What glossary definitions help with understanding congenital contractural arachnodactyly?
aorta ;
arachnodactyly ;
autosomal ;
autosomal dominant ;
camptodactyly ;
cell ;
congenital ;
connective tissue ;
contracture ;
digestive ;
digestive system ;
dilatation ;
dolichostenomelia ;
elastic ;
gene ;
growth factor ;
incidence ;
joint ;
microfibrils ;
mitral valve ;
molecule ;
mutation ;
new mutation ;
protein ;
scoliosis ;
stature ;
syndrome ;
tissue
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary (http://ghr.nlm.nih.gov/glossary).
References
- Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Adès LC, Milewicz DM. Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002 Jan;19(1):39-48. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=11754102)
- Gupta PA, Wallis DD, Chin TO, Northrup H, Tran-Fadulu VT, Towbin JA, Milewicz DM. FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly. J Med Genet. 2004 May;41(5):e56. No abstract available. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=15121784)
- Nishimura A, Sakai H, Ikegawa S, Kitoh H, Haga N, Ishikiriyama S, Nagai T, Takada F, Ohata T, Tanaka F, Kamasaki H, Saitsu H, Mizuguchi T, Matsumoto N. FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactyly. Am J Med Genet A. 2007 Apr 1;143(7):694-8. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=17345643)
- Tunçbilek E, Alanay Y. Congenital contractural arachnodactyly (Beals syndrome). Orphanet J Rare Dis. 2006 Jun 1;1:20. (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=retrieve&db=pubmed&dopt=Abstract&list_uids=16740166)
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
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