Ectrodactyly [Supplementary Concept]
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 introduced: November 6, 2012
MeSH Unique ID: C574275
Heading Mapped to:
Entry Terms:
- Split-hand deformity
- Split hand foot deformity 1
- Split-Hand-Foot Malformation 1
- Split-Hand-Foot Deformity 1
- Split hand foot malformation 1