Search for a rare disease
Other search option(s)
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.
ORPHA:2353Classification level: Disorder
SRS has been described in 18 individuals to date. Its prevalence is unknown.
Features of SRS include a typical facial gestalt characterized by hypotelorism, blepharophimosis, facial asymmetry, small posteriorly angulated ears, a long prominent nose, a small mouth and an array of cleft palate abnormalities. Cutaneous syndactyly of the fingers and toes is a recurrent manifestation. Affected individuals often have a short stature and may present with a mild intellectual disability or learning difficulties. Hypospadias is frequently reported in males with SRS.
Etiology is unknown.
Transmission is autosomal dominant with variable expressivity.
- Summary information
- Russian (2014, pdf)