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macrocephaly-spastic paraplegia-dysmorphism syndrome

MeSH: C563963ORPHA: 2429

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 macrocephaly-spastic paraplegia-dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.

Wide mouthThin upper lip vermilionEverted lower lip vermilionMacrocephalyCoarse facial featuresMandibular prognathiaShort philtrumProminent supraorbital ridgesBroad foreheadHigh foreheadDeeply set eyeThick eyebrowSynophrysIntellectual disabilitySeizureSpasticityGait disturbanceHyperreflexiaTruncal obesityLow posterior hairlineScoliosisKyphosisShort noseThick hair

Classification & Codes

MeSH Code

C563963

Orphanet Code

ORPHA:2429
macrocephaly-spastic paraplegia-dysmorphism syndrome
MeSHC563963
OrphanetORPHA:2429
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
macrocephaly-spastic paraplegia-dysmorphism syndrome | OrphanDrug