Humpath.com - Human pathology

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)