infantile spasms-broad thumbs syndrome
ORPHA: 3173
Overview
human disease
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 infantile spasms-broad thumbs syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal cranial suture/fontanelle morphologyHypertelorismMicrognathiaConvex nasal ridgeOptic disc pallorSeizureCerebral cortical atrophyAplasia/Hypoplasia of the corpus callosumVaginal herniaMicrocephalyDownslanted palpebral fissuresCataractHypertrophic cardiomyopathyEEG abnormalityBroad thumb
Classification & Codes
Orphanet Code
ORPHA:3173infantile spasms-broad thumbs syndrome
| Orphanet | ORPHA:3173 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO