Term Name: split hand-foot malformation
Synonyms: lobster-claw deformity, split-hand deformity
Definition: 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.
Ontology: Human Disease [DOID:0090020]   ( DOID:0090020 )

Relationships
is a type of: bone development disease
has subtype: split hand-foot malformation 1 split hand-foot malformation 1 with sensorineural hearing loss split hand-foot malformation 2 split hand-foot malformation 3 split hand-foot malformation 4 split hand-foot malformation 5 split hand-foot malformation 6