MeSH Browser

MeSH Supplementary: Ectrodactyly
Unique ID: C574275
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C574275
Entry Term(s): Split hand foot deformity 1; Split hand foot malformation 1; Split-Hand-Foot Deformity 1; Split-Hand-Foot Malformation 1; Split-hand deformity
Registry Number: 0
Heading Mapped to: *Limb Deformities, Congenital
Frequency: 73
Note: An autosomal dominant limb malformation disorder 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 FINGER PHALANGES and/or TOE PHALANGES; METACARPALS, and METATARSA‌LS. Some patients with SHFM1 have been found to have INTELLECTUAL DISABILITY, ectodermal and craniofacial findings, orofacial clefting and SENSORINEURAL HEARING LOSS. Mutations have been mapped to the chromosome 7q21.3 region, which includes the DSS1, DLX5, and DLX6 genes. OMIM: 183600
Date of Entry: 2012/11/06
Revision Date: 2015/11/10

Concept UI: M0538708
Registry Number: 0
Terms: Split hand foot deformity 1 Preferred Term
Term UI T737204
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Split hand foot malformation 1
Term UI T737203
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Split-Hand-Foot Malformation 1
Term UI T000889612
Date11/02/2015
LexicalTag NON
ThesaurusID OMIM (2013); Split-Hand-Foot Deformity 1
Term UI T000889613
Date11/02/2015
LexicalTag NON
ThesaurusID OMIM (2013)

Ectrodactyly MeSH Supplementary Concept Data 2024