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Split hand foot malformation OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183600

Description: %183600 SPLIT-HAND/FOOT MALFORMATION 1; SHFM1
Alternative titles;
SPLIT-HAND/FOOT DEFORMITY 1; SHFD1; SHSF1
SPLIT-HAND DEFORMITY
ECTRODACTYLY; ECD 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. Some patients with SHFM1 have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting

Type: Reference Material
Author/Contact: Victor A. McKusick
Institution: OMIM
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 652
Added: Sat Aug 08 2009