Ritscher-Schinzel syndrome

Ritscher-Schinzel syndrome, also known as Cranio-cerebello-cardiac (3C) syndrome, is a rare congenital condition marked by multiple birth anomalies. This syndrome affects the face, brain, and heart. Many people with this condition have distinct facial features such as a prominent back of the head (occiput) and forehead, wide-set eyes (hypertelorism), and sometimes a cleft palate or other eye issues like ocular coloboma. In addition, the condition impacts the brain, specifically the cerebellum, which is responsible for balance and coordination. Many affected individuals show brain malformations such as a Dandy-Walker malformation or underdevelopment of the cerebellar vermis. Heart problems are also common and can include defects like holes in the heart walls (atrial or ventricular septal defects) and complex issues such as tetralogy of Fallot that affect normal heart function.

People with Ritscher-Schinzel syndrome may have a range of symptoms. The facial features include a prominent occiput, a broad forehead, and wide-set eyes. Some may also have a cleft palate or eye issues like ocular coloboma. Brain-related signs include malformations such as Dandy-Walker malformation and cerebellar vermis hypoplasia, which can affect coordination and balance. Heart symptoms often involve defects including atrial and ventricular septal defects and tetralogy of Fallot, which may influence heart function from birth.

Ritscher-Schinzel syndrome is a congenital disorder, meaning that the changes occur before birth. The exact cause of the syndrome is not fully understood, and no specific gene has been identified as responsible. This area continues to be studied, and more research is needed to better understand the factors that contribute to these multiple anomalies.

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.