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

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;

Détails

Origin ID

220600;

UMLS CUI

C1857344;

Automatic exact mappings (from CISMeF team)
- DLX5 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Split hand-split foot-deafness syndrome [ORDO Disease]
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH concept]
- split hand-foot malformation 1 with sensorineural hearing loss [DO Concept]
DO Cross reference
- split hand-foot malformation 1 with sensorineural hearing loss [DO Concept]
Genes related to phenotype
- Distal-less homeobox 5 [OMIM gene]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Abnormality of the lower limb [HPO term]
- Abnormality of the nail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Scoliosis [HPO term]
- Sensorineural hearing impairment [HPO term]
- Severe short stature [HPO term]
- Short stature [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Tapered finger [HPO term]
ORDO concept(s)
- Split hand-split foot-deafness syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Split hand-split foot-deafness syndrome [ORDO Disease]
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH Supplementary Concept]
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH concept]

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