Van Maldergem syndrome
MeSH: C536530ORPHA: 314679
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 Van Maldergem syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayAbnormal facial shapeMicrotiaFeeding difficulties in infancyFloppy infantCamptodactylyRenal hypoplasiaLarge fontanellesMicrognathiaConductive hearing impairmentOsteopeniaSyndactylyModerate intellectual disabilityAbnormal tracheal morphologyGastrostomy tube feeding in infancyHypospadiasNarrow mouthMicrocephalyEpicanthusHypertelorismHypoplasia of the maxillaWide nasal bridgeBlepharophimosisLymphedemaAtaxiaAgenesis of corpus callosumCerebellar vermis hypoplasiaAnteriorly placed anusAbnormal heart morphologyPulmonic stenosisTalipes equinovarusAnal stenosisHypoplasia of the corpus callosumVentriculomegalyGray matter heterotopiaTracheomalaciaCaudal appendageShort statureDysplastic corpus callosumAbsence of pubertal developmentSevere intellectual disabilityIrregular dentitionSelf-injurious behaviorBilateral choanal atresia/stenosis
Classification & Codes
MeSH Code
C536530Orphanet Code
ORPHA:314679Van Maldergem syndrome
| MeSH | C536530 |
| Orphanet | ORPHA:314679 |
| Treatments | 0 drug(s) |
| Symptoms on record | 44 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO