craniodiaphyseal dysplasia
MeSH: C562940ORPHA: 1513
Overview
osteosclerosis that results in increased calcium concentration located in skull which decreases the size of cranium foramina and cervical spinal canal
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 craniodiaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
MacrocephalyCoarse facial featuresStenosis of the external auditory canalConductive hearing impairmentWide nasal bridgeOptic atrophyAbnormal rib morphologyIntellectual disabilityFrontal bossingShort statureCraniofacial hyperostosisDiaphyseal undertubulationDepressed nasal bridge
Classification & Codes
MeSH Code
C562940Orphanet Code
ORPHA:1513craniodiaphyseal dysplasia
| MeSH | C562940 |
| Orphanet | ORPHA:1513 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO