Limb disordersGene: TWIST1
Saethre-Chotzen syndrome (SCS) has a variable spectrum of manifestations and includes brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present. In 37 unrelated individuals with a clinical diagnosis of SCS, 46% had an identifiable pathogenic variants PMID: 9585583. Robinow-Sorauf syndrome is characterized by facies similar to those of Saethre-Chotzen syndrome with bifid or partially duplicated halluces, and known to be caused by pathogenic variants in TWIST1 and considered part of the mild end of the phenotypic spectrum of SCS (PMID:12791045;25565733).
Created: 7 Nov 2018, 1:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Polydactyly; Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400
Louise Daugherty: Saethre-Chotzen syndrome (SCS)
Gene: twist1 has been classified as Green List (High Evidence).
Source Expert Review Green was added to TWIST1. Mode of inheritance for gene TWIST1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Robinow-Sorauf syndrome, 180750; Saethre-Chotzen syndrome, 101400; Polydactyly for gene: TWIST1 Publications for gene TWIST1 were changed from to 11754069; 12791045; 16251895; 10465122; 30152628; 9792856; 11977182; 25565733; 9585583 Rating Changed from Red List (low evidence) to Green List (high evidence)
TWIST1 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
TWIST1 was created by Ellen McDonagh