" /> Camptodactyly 1 - CISMeF





Preferred Label : Camptodactyly 1;

Symbol : CAMPD1;

CISMeF acronym : CAMPD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Camptodactyly and knuckle pads;

Included titles and symbols : Streblodactyly;

Description : Camptodactyly is defined as a permanent flexion contrature of 1 or both fifth fingers at the proximal interphalangeal joints. Additional fingers might be affected, but the little finger is always involved. Usually the condition appears to be sporadic in a family, but clinical examination of relatives reveals that it is an autosomal dominant condition subject to incomplete penetrance and variable expressivity (summary by Malik et al., 2008).;

Inheritance : Autosomal dominant;

Prefixed ID : %114200;

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29/07/2025


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