thoracic dysplasia-hydrocephalus syndrome
MeSH: C564774ORPHA: 18611 Treatment Available
Overview
human disease
Available Treatments (1)
| Drug | Form | Status | Countries | Lead Time |
|---|---|---|---|---|
| Acetazolamide | Oral tablets 125mg, 250mg; Injectable powder for reconstitution 500mg | FDA Approved | 11 | 2d |
Clinical Presentation
Signs and symptoms associated with thoracic dysplasia-hydrocephalus syndrome, sourced from HPO and Orphanet clinical annotations.
Conductive hearing impairmentDepressed nasal ridgeNarrow chestAbnormal metaphysis morphologyIntellectual disabilitySeizureAtaxiaHypotoniaGlobal developmental delayCommunicating hydrocephalusRespiratory failureShort statureLimb undergrowth
Classification & Codes
MeSH Code
C564774Orphanet Code
ORPHA:1861thoracic dysplasia-hydrocephalus syndrome
| MeSH | C564774 |
| Orphanet | ORPHA:1861 |
| Treatments | 1 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO