" /> Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive - CISMeF





Preferred Label : Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive;

Symbol : SHFM1D;

CISMeF acronym : SHFM1D;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Deafness, congenital, with split hands and feet;

Description : Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals (Elliott and Evans, 2006). Some families with SHFM1 (183600) and neurosensory hearing loss have been described (Tackels-Horne et al., 2001). For additional phenotypic information and a discussion of genetic heterogeneity of SHFM, see 183600.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the distal-less homeobox-5 gene (DLX5, 600028.0001);

Prefixed ID : #220600;

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02/05/2025


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