Congenital contractural arachnodactyly (Beals syndrome).
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan syndrome. The clinical features are marfanoid habitus, arachnodactyly, crumpled ears, camptodactyly of the fingers and adducted thumbs, mild contractures of the elbows, knees, and hips, and mild muscle hypoplasia especially of the calf muscles. Many patients have kyphoscoliosis and mitral valve prolapse and, very occasionally, aortic root dilatation and ectopia lentis have been described. Linkage to a gene coding for fibrillin on chromosome 5q23-31 has been shown in several kindreds. The prognosis for a normal lifespan is good and improvement in joint contractures is usual.
Viljoen
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Department of Human Genetics, University of Cape Town Medical School, South Africa.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5; D003286:Contracture / Q000151:congenital / Q000235:genetics*; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities*; D000071837:Fibrillins; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007738:Kyphosis / Q000235:genetics; D008382:Marfan Syndrome / Q000175:diagnosis; D008840:Microfilament Proteins / Q000172:deficiency* / Q000235:genetics; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome
D000071837:Fibrillins; D008840:Microfilament Proteins