growth delay-hydrocephaly-lung hypoplasia syndrome
MeSH: C535406ORPHA: 30351 Treatment Available
Overview
medical condition
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 growth delay-hydrocephaly-lung hypoplasia syndrome, sourced from HPO and Orphanet clinical annotations.
MicrognathiaUpslanted palpebral fissureAbnormal rib morphologyIntrauterine growth retardationOmphaloceleSplenomegalyPulmonary hypoplasiaAqueductal stenosisCerebral calcificationIntestinal malrotationAbnormality of the lower limbTibial bowingRadial bowingAbnormal fibula morphologyBowing of the long bonesLower limb undergrowthAbnormally ossified vertebrae
Classification & Codes
MeSH Code
C535406Orphanet Code
ORPHA:3035growth delay-hydrocephaly-lung hypoplasia syndrome
| MeSH | C535406 |
| Orphanet | ORPHA:3035 |
| Treatments | 1 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Treatment Summary
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO