| Metadata | |
|---|---|
| ID | DOID:0090020 |
| Name | split hand-foot malformation |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/12668597, https://www.ncbi.nlm.nih.gov/pubmed/7802032 |
| Xrefs |
SNOMEDCT_US_2023_03_01:81208006 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
lobster-claw deformity [EXACT] split-hand deformity [EXACT] |
| Parent Relationships |