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Split Hand Foot Malformation 5 SHFM5 OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=606708

Description: %606708 SPLIT-HAND/FOOT MALFORMATION 5; SHFM5
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 SHFM5 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: 666
Added: Sat Aug 08 2009