Schilbach-Rott syndrome

Schilbach-Rott syndrome is a rare genetic condition that affects the way a person’s face and body develop. People with this syndrome often have a unique appearance which includes closely spaced eyes (hypotelorism) and narrow openings of the eyelids (blepharophimosis). The condition is also linked with a cleft palate, which is an opening or split in the roof of the mouth. This syndrome is described as an autosomal dominant disorder, meaning that a change in one copy of a gene can cause the condition. It affects several body parts, and is often recognized by its distinctive facial features and the presence of hypospadias in males, where the opening of the urethra is not at the usual location. The condition has been cataloged in several medical databases, helping health professionals better identify and study it.

Common signs seen in people with Schilbach-Rott syndrome include distinctive facial features. These may include hypotelorism, where the eyes are set closer together, and blepharophimosis, which presents as narrow eye openings. Many individuals also have a cleft palate, an opening in the roof of the mouth. Additionally, males with the condition often experience hypospadias, a condition where the urethral opening is located on the underside of the penis.

Schilbach-Rott syndrome is an autosomal dominant condition. This means that the syndrome can be passed down from one generation to the next, with a change in just one copy of the gene being enough to cause the condition. The specific genetic changes or risk factors beyond its mode of inheritance have not been detailed in the available information.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.