Pitt-Hopkins syndrome

Pitt-Hopkins syndrome is a rare genetic disorder characterized by developmental delay, moderate to severe intellectual disability, distinctive facial features, and possible intermittent hyperventilation followed by apnea. Epilepsy often occurs. It is part of the clinical spectrum of Rett-like syndromes and resembles Angelman, Rett, Mowat-Wilson and ATR-X syndromes. It is associated with an abnormality within chromosome 18 that causes insufficient expression of the TCF4 gene. The spectrum can also include anxiety, autism, ADHD and sensory difficulties. Cognitive ability is hard to measure given motor and speech difficulties, and with augmentative communication many individuals achieve more than once thought. No cure is known, but associated symptoms can be treated. It is estimated to occur in 1 in 31,000 to 41,000 people.