Muenke syndrome

MeSH: C537369ORPHA: 53271

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 Muenke syndrome, sourced from HPO and Orphanet clinical annotations.

HydrocephalusBrachycephalyMacrocephalyMalar flatteningHypertelorismSensorineural hearing impairmentPtosisProptosisHypermelanotic maculeHypopigmented skin patchesGlobal developmental delayPlagiocephalyShort footIncreased intracranial pressureHigh, narrow palateShort palmCoronal craniosynostosisHypopigmentation of hairTarsal synostosisCarpal synostosisCone-shaped epiphysis

Classification & Codes

MeSH Code

C537369

Orphanet Code

ORPHA:53271
Muenke syndrome
MeSHC537369
OrphanetORPHA:53271
Treatments0 drug(s)
Symptoms on record21 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO