craniometadiaphyseal dysplasia, wormian bone type
ORPHA: 85184
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 craniometadiaphyseal dysplasia, wormian bone type, sourced from HPO and Orphanet clinical annotations.
High palateParietal bossingMacrocephalyWide anterior fontanelMalar flatteningMicrognathiaDownslanted palpebral fissuresProptosisBroad ribsOsteopeniaAbnormal diaphysis morphologyShort tubular bones of the handAbnormal foot morphologyCurly hairWormian bonesCoxa valgaAbnormality of skull ossificationThin bony cortexObtuse angle of mandibleOvertubulated long bonesBroad femoral neckVertebral arch anomalyAbnormal temporal bone morphologyThin calvariumIncreased bone mineral densityProminent forehead
Classification & Codes
Orphanet Code
ORPHA:85184craniometadiaphyseal dysplasia, wormian bone type
| Orphanet | ORPHA:85184 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO