epilepsy-microcephaly-skeletal dysplasia syndrome
MeSH: C537662ORPHA: 1948
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 epilepsy-microcephaly-skeletal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHirsutismIntellectual disabilitySeizureCoarse facial featuresScoliosisDelayed skeletal maturation
Classification & Codes
MeSH Code
C537662Orphanet Code
ORPHA:1948epilepsy-microcephaly-skeletal dysplasia syndrome
| MeSH | C537662 |
| Orphanet | ORPHA:1948 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO