DISEASES

Disease-gene associations mined from literature

Human genes for split hand-foot malformation

Split hand-foot malformation [DOID:0090020]

A bone development disease characterized by malformation of 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 also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting.

Synonyms:  split hand-foot malformation,  DOID:0090020,  split handfoot malformation,  split hand-foot malformations,  lobster-claw deformity ...