split hand-foot malformation

Term ID

DOID:0090020

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. (2)

References

GARD:6319
MESH:C574275
NCI:C75000
OMIM:PS183600
ORDO:2440
SNOMEDCT_US_2023_03_01:81208006
UMLS_CUI:C0265554

Ontology

Human Disease ( DOID:0090020 )

Relationships

is a type of: bone development disease

bone development disease Show first 5 Terms
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 ... Show All 7 Terms

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 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations