Polydactyly
Gene: BHLHA9
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes 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. At least 10 unrelated families reported.Created: 9 Nov 2021, 4:54 a.m. | Last Modified: 9 Nov 2021, 4:54 a.m.
Panel Version: 0.240
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: bhlha9 has been classified as Green List (High Evidence).
Phenotypes for gene: BHLHA9 were changed from to Syndactyly, mesoaxial synostotic, with phalangeal reduction, MIM# 609432
Publications for gene: BHLHA9 were set to
Mode of inheritance for gene: BHLHA9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: BHLHA9 was added gene: BHLHA9 was added to Polydactyly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BHLHA9 was set to Unknown