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skeletal dysplasia-epilepsy-short stature syndrome

MeSH: C537625ORPHA: 1858

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 skeletal dysplasia-epilepsy-short stature syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionMandibular prognathiaDental malocclusionBrachydactylyIntellectual disabilitySeizureHip dysplasiaEEG abnormalityScoliosisSkeletal dysplasiaKyphosisHypoplastic iliac wingIncreased circulating IgE concentrationShort statureShort distal phalanx of finger

Classification & Codes

MeSH Code

C537625

Orphanet Code

ORPHA:1858
skeletal dysplasia-epilepsy-short stature syndrome
MeSHC537625
OrphanetORPHA:1858
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO