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facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

MeSH: C535985ORPHA: 1970

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, sourced from HPO and Orphanet clinical annotations.

Small scrotumHypotoniaAbnormality of the dentitionAbnormal palate morphologyMacrocephalyCoarse facial featuresEpicanthusBroad foreheadHigh foreheadWide nasal bridgeMyopiaThick eyebrowNystagmusOptic atrophySynophrysHirsutismAtrophic fundus lesionDandy-Walker malformationBroad nailScoliosisHemiplegia/hemiparesisIntellectual disabilityShort distal phalanx of fingerSevere intellectual disabilityAbnormal helix morphologySeizureHypertoniaCryptorchidismPosteriorly rotated ears

Classification & Codes

MeSH Code

C535985

Orphanet Code

ORPHA:1970
facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
MeSHC535985
OrphanetORPHA:1970
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO