Schilbach-Rott syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Print

Disease Overview

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.


Synonyms

  • BRSS
  • Schilbach-Rott syndrome
  • blepharofacioskeletal syndrome
  • cleft palate, hypotelorism, and hypospadias
  • hypotelorism cleft palate hypospadias
  • hypotelorism-cleft palate-hypospadias syndrome
  • ocular hypotelorism, submucosal cleft palate, and hypospadiasBRSS
  • Schilbach-Rott syndrome
  • blepharofacioskeletal syndrome
  • cleft palate, hypotelorism, and hypospadias
  • hypotelorism cleft palate hypospadias
  • hypotelorism-cleft palate-hypospadias syndrome
  • ocular hypotelorism, submucosal cleft palate, and hypospadias