split hand-foot malformation

Summary
Synonym
  • 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.
Super Class
bone development disease
External Links
Disease Ontology
DOID:0090020
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7368 UGT8 UDP glycosyltransferase 8
81890 QTRT1 queuine tRNA-ribosyltransferase catalytic subunit 1
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024