megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

ORPHA: 83473

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 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome, sourced from HPO and Orphanet clinical annotations.

Narrow mouthHydrocephalusMacrocephalyHypertelorismHigh foreheadTelecanthusPostaxial hand polydactylySeizureMegalencephalyVentricular septal defectMitral regurgitationAbnormal cardiac septum morphologyPolymicrogyriaAbnormal nasal morphologyDepressed nasal bridgeAbnormal localization of kidney

Classification & Codes

Orphanet Code

ORPHA:83473
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
OrphanetORPHA:83473
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | OrphanDrug