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;
Origin ID : 220600;
UMLS CUI : C1857344;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)