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spinocerebellar ataxia-dysmorphism syndrome

MeSH: C564802ORPHA: 1185

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 spinocerebellar ataxia-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.

Joint hypermobilityPosteriorly rotated earsDolichocephalyEpicanthusBroad foreheadAnteverted naresPtosisProptosisNystagmusHyperextensible skinHypotoniaGlobal developmental delayCoarse hairDownturned corners of mouthGenu recurvatumCubitus valgusSlender long boneShort noseEMG abnormalityReduced bone mineral densityAplasia/Hypoplasia of the cerebellumThick vermilion borderMacrocephalyOptic atrophySpina bifida occultaShort stature

Classification & Codes

MeSH Code

C564802

Orphanet Code

ORPHA:1185
spinocerebellar ataxia-dysmorphism syndrome
MeSHC564802
OrphanetORPHA:1185
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO