Congenital contractural arachnodactyly

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Congenital contractual arachnodactyly
Synonyms Beals syndrome; Beals–Hecht syndrome; Arachnodactyly, contractural Beals type; multiple with arachnodactyly; Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis; Distal arthrogryposis type 9
Symptoms tall, slender body; arm span exceeds height; long, slender fingers and toes; kyphoscoliosis; crumpled ear; joint stiffness
Usual onset conception
Causes mutation of FBN2 gene
Treatment physical therapy for joint contractures; bracing and/or surgical correction for kyphoscoliosis
Prognosis life expectancy depends on severity of symptoms but typically it is not shortened

Congenital Contractural Arachnodactyly (CCA, Beals syndrome) is a rare congenital connective tissue disorder.[1] As with Marfan's syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes.[2] However, Beals and Hecht discovered in 1972 that, unlike Marfan's, CCA is caused by mutations to the FBN2 gene.[1][3]

Signs and Symptoms[edit]

CCA is characterized by contractures of varying degrees, mainly involving the large joints, which are present in all affected children at birth.[1] The contractures may be mild and tend to improve over time, but permanently bent fingers and toes (camptodactyly) are almost always present.[1][4] In addition to long fingers and toes and a tall, slender body, people with CCA often have ears that appear to be crumpled, joint stiffness, and underdeveloped muscles (muscular hypoplasia), and they may have curved spines (congenital kyphoscoliosis).[1][2] If kyphoscoliosis is present, it often becomes progressively worse and may require surgery.[2][5] In some cases, the blood vessel that distributes blood from the heart to the rest of the body (aorta) may be abnormally enlarged (aortic root dilatation).[4]

Causes[edit]

Congenital Contractural Arachnodactyly may be the result of new mutations in the FBN2 gene or it may be inherited from a parent in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.[2]

diagram demonstrating autosomal dominant manner
Congenital Contractural Arachnodactyly is inherited in an autosomal dominant pattern

Diagnosis[edit]

CCA may be diagnosed through the physical characteristics associated with the disease of long, slender body and contractures of multiple joints, as well as other symptoms, such as muscular hypoplasia.[2] Molecular genetic tests may be run using sequence analysis or deletion/duplication analysis to look for mutations in the FBN2 gene.[6] Prenatal testing may be used for pregnancies with a risk of CCA, such as a parent or sibling with the disease.[2]

Management[edit]

Joint contractures are treated using physical therapy to increase mobility and to improve the effects of underdeveloped muscles.[1] Braces and/or surgery may be required to correct kyphoscoliosis.[1] Children born with CCA are usually tested using echocardiograms every two years until the risks of an enlarged aorta (aortic root dilation) have been ruled out.[2] If this is detected, it is managed with standard care for this condition.[2]

Prognosis[edit]

Life expectancy may be affected by the disease symptoms present but it is not usually shortened for those with this disease.[4]

See also[edit]

References[edit]

  1. ^ a b c d e f g NIH Genetic and Rare Diseases Information Center (GARD) (2017-01-31). "Congenital contractural arachnodactyly". rarediseases.info.nih.gov. Retrieved 2018-04-18. 
  2. ^ a b c d e f g h Godfrey, Maurice (2012-02-23). Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora JH; Stephens, Karen; Amemiya, Anne, eds. GeneReviews®: Congenital Contractural Arachnodactyly. Seattle (WA): University of Washington, Seattle. PMID 20301560. 
  3. ^ Hecht, F.; Beals, R. K. (April 1972). ""New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896". Pediatrics. 49 (4): 574–579. ISSN 0031-4005. PMID 4552107. 
  4. ^ a b c "Congenital contractural arachnodactyly". Genetics Home Reference. 2013. Retrieved 2018-04-18. 
  5. ^ Tunçbilek E, Alanay Y (2006). "Congenital contractural arachnodactyly (Beals syndrome)". Orphanet J Rare Dis. 1: 20. doi:10.1186/1750-1172-1-20. PMC 1524931Freely accessible. PMID 16740166. 
  6. ^ "Congenital contractural arachnodactyly". Genetic Testing Registry. Retrieved 2018-04-18. 

External links[edit]

Classification
External resources