You are using an outdated browser. Please upgrade your browser to improve your experience.

mesoaxial synostotic syndactyly with phalangeal reduction

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.
Uniprot Description An autosomal recessive, non-syndromic digit anomaly characterized by mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes.
Mondo Term and Equivalent IDs
MONDO:0012271:  mesoaxial synostotic syndactyly with phalangeal reduction
GARD:0010590: 
MESH:C563721: 
Orphanet:157801: 
SCTID:724170007: 
UMLS:C1836206: