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Pit-Hopkins syndrome


ICD-10: Q87.0

ORPHA: 2896

General information

Estimated occurrence
2-3:100,000 live births.
Pitt-Hopkins syndrome (PTHS) occurs due to a de novo mutation on gene TCF4, which is on chromosome 18q21.1.
General symptoms
Children with PTHS have delayed motorics development, developmental disorders, and limited or no ability to speak. A small head is common, and around half the children suffer from epilepsy. Many have eye symptoms, such as short-sightedness and strabismus. Episodic hyperventilation is common, with periodic panting which can lead to breathing cessation. Constipation and other stomach and bowel problems are common. Certain behavioural disorders can occur, and some are diagnosed with atypical autism.

Orofacial/odontological symptoms

People with PTHS have common features in terms of appearance. In literature, symptoms such as protruding lower jaw, overjet, widely spaced teeth, teeth breaking through later than normal, daytime bruxism and reduced pain sensitivity have been described. Oral motor function is often affected, which can lead to difficulties sucking and eating, as well as saliva leakage.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential in cases of difficulty with managing dental treatment and tooth brushing.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre.
  • Oral motor training and stimulation may be appropriate in cases of eating difficulties, speaking difficulties and reduced saliva control.
  • Speech, language and communication training is often warranted.


Updated: 2019-11-12 15:02