Pitt-Hopkins syndrome
MeSH: C537403ORPHA: 2896
Overview
rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Pitt-Hopkins syndrome, sourced from HPO and Orphanet clinical annotations.
Wide mouthAbnormal palate morphologyMicrocephalyCoarse facial featuresFull cheeksShort philtrumNarrow foreheadThickened helicesProminent nasal bridgeAnteverted naresShort neckAstigmatismDeeply set eyeMyopiaUpslanted palpebral fissureTooth malpositionSingle transverse palmar creaseTapered fingerIntellectual disabilityAtaxiaHypotoniaGlobal developmental delaySpecific learning disabilityFailure to thriveGrowth delayPes planusConstipationGastroesophageal refluxHiatus herniaMutismModerate intellectual disabilitySleep disturbanceAphasiaFailure of eruption of permanent teethPes valgusEcholaliaShort metatarsalAbnormal helix morphologyBroad fingertipOverhanging nasal tipFeeding difficultiesThick vermilion borderFinger clinodactylyEsophagitisSmall handTriangular nasal tipStrabismusAcrocyanosisSeizureAbsent speechNarrow footGait ataxiaSmall cerebral cortexAbnormal pattern of respirationHyperventilationAplasia/Hypoplasia of the corpus callosumSleep apneaCryptorchidismMicropenisAggressive behaviorAutistic behaviorHypopigmented skin patchesSupernumerary nippleScoliosisPostnatal growth retardationHappy demeanorSelf-injurious behaviorAganglionic megacolonHodgkin lymphoma
Classification & Codes
MeSH Code
C537403Orphanet Code
ORPHA:2896Pitt-Hopkins syndrome
| MeSH | C537403 |
| Orphanet | ORPHA:2896 |
| Treatments | 0 drug(s) |
| Symptoms on record | 69 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO