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Genetic and Rare Diseases Information Center (GARD)

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Congenital contractural arachnodactyly


Other Names for this Disease
  • Arachnodactyly, contractural Beals type
  • Beals syndrome
  • Beals-Hecht syndrome
  • CCA
  • Contractures, multiple with arachnodactyly
More Names
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Your Question

My nephew has been diagnosed with Beals syndrome (also known as congenital contractural arachnodactyly). Can you provide me with information?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is congenital contractural arachnodactyly?

Congenital contractural arachnodactyly (CCA) is a genetic disorder that is typically characterized by tall height; skinny, long limbs; long, skinny fingers and toes (arachnodactyly); multiple joint deformities present at birth (congenital contractures), usually of the elbows, knees, hips, fingers and ankles; "crumpled"-looking ears, and curvature of the spine (kyphoscoliosis). Other features might also be present and vary from person to person. CCA is caused by mutations in a gene called FBN2 gene and is inherited in an autosomal dominant pattern.[1][2] CCA shares similiar signs and symptoms to Marfan syndrome; however, Marfan syndrome is not caused by mutations in the FBN2 gene.
Last updated: 11/20/2009

What symptoms may be associated with congenital contractural arachnodactyly?

Congenital contractural arachnodactyly represents a broad spectrum of characteristics. The features are quite variable, both within and between families. The classic form is characterized by a Marfan-like appearance (tall and slender with arm span exceeding height), arachnodactyly (long slender fingers and toes), 'crumpled' ears, contractures of major joints from birth (particularly knees, elbows, fingers, toes, and hips), bowed long bones, muscular hypoplasia (underdeveloped muscles), kyphosis/scoliosis, aortic root dilation, and various craniofacial abnormalities (such as micrognathia, high arched palate, scaphocephaly (premature fusion of the sagittal suture of the skull leading to a long, narrow head), brachycephaly (premature fusion of the coronal suture, leading to a short skull), and frontal bossing).[1] 

At the most severe end of the spectrum is a rare type with very few reported cases. In addition to the typical skeletal findings (arachnodactyly, joint contractures, scoliosis) and abnormally shaped ears, infants with the severe/lethal form have multiple cardiovascular and gastrointestinal abnormalities.[1]

Last updated: 11/20/2009

What causes congenital contractural arachnodactyly?

Congenital contractural arachnodactyly is caused by mutations in the FBN2 gene. 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 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.[1]

This condition is inherited in an autosomal dominant manner.[1]

Last updated: 11/20/2009

How might congenital contractural arachnodactyly be treated?

Physical therapy for joint contractures helps increase joint mobility and ameliorate the effects of muscle hypoplasia (usually in the calf muscles). In severe cases, surgical release may be necessary. Since the kyphosis/scoliosis tends to be progressive, bracing and/or surgical correction is often needed. Consultation with an orthopedist is encouraged. Other symptoms, if present, should be addressed as they arise and in the standard manner. Regular physician visits should be scheduled to monitor symptom progression and development.[1]
Last updated: 11/20/2009

What is the prognosis for individuals with congenital contractural arachnodactyly?

Individuals with congenital contractural arachnodactyly may live normal lives unless complications involving cardiac issues or severe deformity of the vertebrae arise. In general, life span does not appear to be shortened.[3]
Last updated: 11/20/2009

References