Hypotelorism cleft palate hypospadias

Other Names: Schilbach-Rott syndrome; Ocular hypotelorism, submucosal cleft palate, and hypospadias; Blepharofacioskeletal syndrome

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.

Epidemiology

SRS has been described in 18 individuals to date. Its prevalence is unknown.

Cause

Etiology is unknown.

Inheritance

Transmission is autosomal dominant with variable expressivity.

Signs and symptoms

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.

NIH genetic and rare disease info

• NIH info on Hypotelorism cleft palate hypospadias

Hypotelorism cleft palate hypospadias is a rare disease.

Hypotelorism cleft palate hypospadias Resources
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