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Mental retardation associated with cardiac and limb anomalies.

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Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia.

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Extremely rare (two sisters and a brother); autosomal recessive.

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Features include expressionless face with broad nose and flared nares, limb anomalies (camptodactyly, arachnodactyly of fingers and toes, clawhand, hammertoes, large hands), mental retardation, fibrous tissue hyperplasia, and scoliosis. Patent ductus arteriosus was present in the boy.

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Involvement warrants thorough cardiovascular evaluation. Vascular access may be difficult due to the anatomical anomalies.

Goodman RM, Katznelson MB, Manor E: Camptodactyly: Occurrence in two new genetic syndromes and its relationship to other syndromes. J Med Genet 9:203, 1972.%

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