Home > D. General pathology > Genetic and developmental anomalies > Robinow-Sorauf syndrome
Robinow-Sorauf syndrome
MIM.180750
Sunday 3 April 2005
Autosomal dominant disease
Synopsis
flat facies
thin, long, pointed nose
shallow orbits
hypertelorism
plagiocephaly (asymmetry of orbits)
strabismus
broad great toes
duplicated great toe distal phalanx
Etiology
mutations in the TWIST gene (MIM.601622)
- Robinow-Sorauf syndrome is merely part of the phenotypic spectrum of Saethre-Chotzen syndrome (MIM.101400) which is also caused by TWIST mutations.
