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Split hand-foot malformation 5(SHFM5)

MedGen UID:
338277
Concept ID:
C1847622
Disease or Syndrome
Synonym: Split-hand/foot malformation 5
 
Monarch Initiative: MONDO:0011709
OMIM®: 606708

Definition

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 (Elliott and Evans, 2006). For additional phenotypic information and a discussion of genetic heterogeneity in this disorder, see SHFM1 (183600). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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