GTR Home > Conditions/Phenotypes > Pitt-Hopkins syndrome

Disease characteristics

Excerpted from the GeneReview: Pitt-Hopkins Syndrome
Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial features which become more apparent with age (100%), developmental delay/intellectual disability (100%), and episodic hyperventilation and/or breath-holding while awake (55%-60%). Global developmental delays are significant and intellectual disability is moderate to severe: mean age of walking is four to six years; most affected individuals are nonverbal. Other common findings are behavioral issues, hand stereotypic movements, seizures (40%-50%), constipation, and severe myopia.

Associated genes

  • Also known as: E2-2, ITF-2, ITF2, PTHS, SEF-2, SEF2, SEF2-1, SEF2-1A, SEF2-1B, SEF2-1D, TCF-4, bHLHb19, TCF4
    Summary: transcription factor 4

Clinical features

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  • Apnea
  • Hyperventilation
  • Intellectual disability, severe
  • Strabismus
  • Aggressive behavior
  • Tapered fingers
  • Short neck
  • Narrow foot
  • Hypopigmented skin patches
  • Narrow forehead
  • Thickened helices
  • Microcephaly
  • Intellectual disability, progressive
  • Anteverted nares
  • Hypoplasia of the corpus callosum
  • Coarse facial features
  • Widely spaced teeth
  • Cognitive impairment
  • Absent speech
  • Open mouth
  • Short philtrum
  • Incoordination
  • Full cheeks
  • Single transverse palmar crease
  • Seizure
  • Constipation
  • Cryptorchidism
  • Micropenis
  • Wide mouth
  • Abnormality of the teeth
  • Abnormality of the palate
  • Thick lower lip vermilion
  • Cupped ear
  • Wide nasal bridge
  • Astigmatism
  • Deeply set eye
  • Myopia
  • Upslanted palpebral fissure
  • Clubbing
  • Muscular hypotonia
  • Motor delay
  • Pes planus
  • Gastroesophageal reflux
  • Gait ataxia
  • Neurological speech impairment
  • Hypoplasia of penis
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