Congenital contractural arachnodactyly
| Beals syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 121050 |
| DiseasesDB | 29326 |
| GeneReviews | |
Beals syndrome (congenital contractural arachnodactyly, Beals-Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's syndrome.
It was characterized in 1972.[1]
It is associated with FBN2.[2] It is caused by a mutation in FBN2 gene on chromosome 5q23. Contractures of varying degrees at birth, mainly involving the large joints, are present in all affected children. Elbows, knees and fingers are most commonly involved. The contractures may be mild and tend to reduce in severity, but residual camptodactyly always remains present. The arm span exceeds body height but the discrepancy may be underestimated due to contractures of elbows and fingers. The same holds for the lower body portion with knee contractures. The most serious complication in CCA is scoliosis and sometimes kyphoscoliosis mandating surgery.[3]
Presentation
Sufferers usually have long, thin fingers and toes with contractures preventing straightening and limiting movement.[4] Contractures also affect hips, elbows, knees and ankles. They also have unusual external ears that appear crumpled. Contractures may be present from birth and may appear as a club foot. Long bone fractures may also form a part of the syndrome, though the evidence for this is limited to the case report level.[5]
See also
References
- ↑ Hecht F, Beals RK (April 1972). ""New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896". Pediatrics 49 (4): 574–79. PMID 4552107.
- ↑ Gupta PA, Putnam EA, Carmical SG; et al. (January 2002). "Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype". Hum. Mutat. 19 (1): 39–48. doi:10.1002/humu.10017. PMID 11754102.
- ↑ Tunçbilek E, Alanay Y (2006). "Congenital contractural arachnodactyly (Beals syndrome)". Orphanet J Rare Dis 1: 20. doi:10.1186/1750-1172-1-20. PMC 1524931. PMID 16740166.
- ↑ Beals Syndrome, Encyclopedia of Genetic Disorders, Retrieved 2007-5-21
- ↑ Kyaw P, Arachchi A, Vasudevan A (2011). "A rare presentation of Beals syndrome; a newly recognized connective tissue disorder". Grand Rounds 11: 115–8. doi:10.1102/1470-5206.2011.0027.
External links
| ||||||||||||||||||||||||||||