Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare genetic mutation, with the main symptoms being mild to severe mental retardation, cerebral spasms, and various congenital malformations, such as Hirschsprung's disease, heart defects, and ocular abnormalities.

In addition, sufferers have a distinctive facial phenotype. Among other things the patients have a high, bulging forehead, hypertolerance, long eyebrows, low-set, large eyes and an open mouth with M-shaped upper lip. The majority of patients develop microcephaly, and also epilepsy, which often begins at the age of two.

Frequently, patients suffer from a comprehensive developmental disorder. As a result, the affected children learn to walk between the fourth and sixth year of life. The patients walk often with raised and bent arms and broad-based.

Children, whose language acquisition is severely limited, are usually described as being especially happy and laughing a lot.

The gene mutations for the disease are in the ZEB2, ZFHX1B and SIP1 gene and occurred in high amounts in the described cases (more than 100 deletions and mutations).