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Robinow-Sorauf syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.
Mondo Term and Equivalent IDs
MONDO:0008391:  Robinow-Sorauf syndrome
MESH:C537183: 
UMLS:C1867146: 
UMLS:CN203672: