Authors' recommendations: Pitt-Hopkins syndrome (PTHS) is a very rare, severe encephalopathy that has been diagnosed in fewer than 250 individuals worldwide. PTHS is characterized by severe intellectual disability, motor incoordination and speech impairment, and characteristic facial features. Individuals with PTHS commonly have seizures and breathing abnormalities such as hyperventilation and apnea. Other symptoms that may occur with PTHS include clubbing of fingers and toes; constipation; postnatal growth slowing, particularly of the head; stereotypical hand movements; flat feet; a single crease across the palms; small hands and feet; ocular anomalies; short stature; subtle brain abnormalities; and cryptorchidism in males. Symptoms of PTHS overlap with those of similar intellectual disability disorders such as Angelman (AS), Rett (RTT), and Mowat-Wilson (MWS) syndromes. PTHS is associated with genetic variants in the transcription factor 4 (TCF4) gene. TCF4 encodes a transcription factor that plays an important role in regulation of cell differentiation and cell growth. TCF4 is located on the long arm of chromosome 18 at band q21.1, and contains twenty exons. The development of disease is associated with the presence of genetic variants in one of the two copies of an individual's TCF4 gene (i.e., it is an autosomal dominant disorder, although most cases are de novo in nature [i.e., not inherited from a parent]). There is currently no cure for PTHS, and treatment is symptom driven.

Project Status: Completed

Year Published: 2012

URL for published report: http://www.hayesinc.com/hayes/crd/?crd=13447

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: United States

Organisation Name: HAYES, Inc.

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Copyright: 2011 Winifred S. Hayes, Inc