osteosclerosis-developmental delay-craniosynostosis syndrome
ORPHA: 178377
Overview
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term)
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 osteosclerosis-developmental delay-craniosynostosis syndrome, sourced from HPO and Orphanet clinical annotations.
BrachycephalyMacrocephalyHypertelorismBroad foreheadHigh foreheadHearing impairmentVisual impairmentOptic atrophyCraniosynostosisHeadacheIncreased intracranial pressureThickened calvariaFacial palsyIncreased bone mineral densityMild global developmental delayBroad jaw
Classification & Codes
Orphanet Code
ORPHA:178377osteosclerosis-developmental delay-craniosynostosis syndrome
| Orphanet | ORPHA:178377 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO