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GTR Home > Conditions/Phenotypes > Split hand-foot malformation 6

Split hand-foot malformation 6

Synonyms
ECTRODACTYLY, AUTOSOMAL RECESSIVE; Split-hand/foot malformation 6

Summary

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 SHFM have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting (Elliott and Evans, 2006). For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformations, see SHFM1 (183600). [from OMIM]

Available tests

13 tests are in the database for this condition.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: SHFM6, STHAG8, WNT-12, WNT10B
    Summary: Wnt family member 10B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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