Pallister-Hall syndrome
ICD-10: D33.0MeSH: D054975ORPHA: 672
Overview
Human disease
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 Pallister-Hall syndrome, sourced from HPO and Orphanet clinical annotations.
Posteriorly rotated earsDownslanted palpebral fissuresPtosisMicrophthalmiaNatal toothRib fusionBrachydactylyPostaxial hand polydactylyIntrauterine growth retardationToe syndactylyAnal atresiaNail dysplasiaSkeletal dysplasiaHip dislocationHemivertebraeRadial bowingRadial head subluxationShort noseShort statureSupernumerary metacarpal bonesBilateral postaxial polydactylyGonadotropin deficiencySecondary growth hormone deficiencyPituitary hypothyroidismMicrotiaLaryngeal cleftPolydactyly affecting the 3rd fingerPolydactyly affecting the 4th fingerShort 4th metacarpalBroad thumbCentral adrenal insufficiencyAdrenocorticotropic hormone deficiency3-4 finger cutaneous syndactylyAbnormal basal ganglia MRI signal intensityHypopituitarismAbnormal prolactin levelMesoaxial polydactylyRecurrent upper and lower respiratory tract infectionsInguinal herniaCryptorchidismHypospadiasMicropenisEctopic kidneyUnilateral renal agenesisMicroglossiaCleft palateFacial grimacingMicroretrognathiaChoanal atresiaParoxysmal bursts of laughterPrecocious pubertyAdrenal hypoplasiaPanhypopituitarismGlobal developmental delayAbnormal corpus callosum morphologyCerebellar hypoplasiaHoloprosencephalyLarge for gestational ageUmbilical herniaVentricular septal defectAtrial septal defectPatent ductus arteriosusCoarctation of aortaBroad toeOverlapping toeAbnormal lung lobationThyroid hypoplasiaAtrioventricular canal defectMidline facial capillary hemangiomaPrimary adrenal insufficiencyDecreased testicular sizeBifid epiglottisFocal emotional seizure with laughingOligodactylyAuricular tagCleft lipSmall scrotumAmbiguous genitaliaTrigonocephalyIntellectual disabilityOligohydramniosTalipesRespiratory insufficiencyArrhinencephalyDistal arthrogryposisAplasia/hypoplasia of the uterusBilateral renal agenesisAplasia/Hypoplasia of the vaginaHydrometrocolposOsteochondromaScaphocephalyHypothalamic hamartomaRenal dysplasiaAccessory oral frenulumBifid uvulaMacrocephalyHypertelorismAtresia of the external auditory canalDepressed nasal ridgeAnteverted nares
Classification & Codes
ICD-10 Code
D33.0MeSH Code
D054975Orphanet Code
ORPHA:672Pallister-Hall syndrome
| ICD-10 | D33.0 |
| MeSH | D054975 |
| Orphanet | ORPHA:672 |
| Treatments | 0 drug(s) |
| Symptoms on record | 100 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO