Malan syndrome
ORPHA: 420179
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 Malan syndrome, sourced from HPO and Orphanet clinical annotations.
Accelerated skeletal maturationTall statureMacrocephalyNarrow faceOval faceHigh foreheadStrabismusDownslanted palpebral fissuresPectus excavatumNeonatal hypotoniaHypoplasia of the corpus callosumVentriculomegalyLow posterior hairlineModerate intellectual disabilitySlender long boneFeeding difficulties in infancyProminent foreheadNarrow mouthHigh palatePointed chinFacial asymmetryDeeply set eyeOptic disc pallorNystagmusAnxietySeizureMild intellectual disabilityPlagiocephalyFrontal bossingMigraineEpisodic ataxiaHypoplasia of the brainstemScoliosisDepressed nasal bridgeLateral ventricle dilatationOptic disc hypoplasiaSevere intellectual disabilityScaphocephaly
Classification & Codes
Orphanet Code
ORPHA:420179Malan syndrome
| Orphanet | ORPHA:420179 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO