" /> Synpolydactyly 1 - CISMeF





Preferred Label : Synpolydactyly 1;

Symbol : SPD1;

CISMeF acronym : SDTY2; SPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Syndactyly, type II; SDTY2;

Description : Synpolydactyly, or syndactyly type II, is defined as a connection between the middle and ring fingers and fourth and fifth toes, variably associated with postaxial polydactyly in the same digits. Minor local anomalies and various metacarpal or metatarsal abnormalities may be present (summary by Merlob and Grunebaum, 1986).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox D13 gene (HOXD13, 142989.0001);

Prefixed ID : #186000;

Détails


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30/07/2025


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