| Beals syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 121050 |
| DiseasesDB | 29326 |
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]
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 clubbed foot.
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