Pitt–Hopkins syndrome

The Pitt- Hopkins syndrome is a genetic disorder caused by changes in the TCF4 gene is located in chromosome 18. In some documented cases, this gene is absent at all, which leads to the abnormality of chromosome 18. Hallmark of the disease are mental retardation, impaired motor development, abnormal facial features, and respiratory disorders. The patients often suffer from this genetic defect, even under growth retardation and lack of language skills.

Medical importance

The disease was first described in 1978, but only in 2007 the TCF4 gene could be identified. The Pitt- Hopkins syndrome occurs very rarely - less than 200 cases worldwide have been previously officially confirmed. The disease is currently considered incurable.