Robinow-Sorauf syndrome is an autosomal dominant syndrome characterized by craniosynostosis and duplication of the hallux. It has been reported that mutations in TWIST1 cause this syndrome. TWIST1 encodes a basic helix-loop-helix motif shared by several DNA-binding transcription factors.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02949 Robinow-Sorauf syndrome
