craniometaphyseal dysplasia
MeSH: C565145ORPHA: 1522
Overview
osteosclerosis that has material basis in mutations in the ANKH gene which results in progressive thickening located in skull and abnormally shaped ends of long bones in the limbs
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 craniometaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.
HypertelorismConductive hearing impairmentSensorineural hearing impairmentWide nasal bridgeVisual impairmentTelecanthusAbnormal metaphysis morphologyAbnormal cranial nerve morphologySkeletal dysplasiaCraniofacial hyperostosisDepressed nasal bridgeFacial palsyOsteopetrosis
Classification & Codes
MeSH Code
C565145Orphanet Code
ORPHA:1522craniometaphyseal dysplasia
| MeSH | C565145 |
| Orphanet | ORPHA:1522 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO