craniometaphyseal dysplasia
Findings
No curated finding names craniometaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Definition from the Mondo Disease Ontology (MONDO:0015465), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Craniofacial hyperostosisHPOHP:0004493
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- OsteopetrosisHPOHP:0011002
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Frequent (30% to 79% of cases)
- TelecanthusHPOHP:0000506
- Frequent (30% to 79% of cases)
- Abnormal cranial nerve morphologyHPOHP:0001291
- Occasional (5% to 29% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Occasional (5% to 29% of cases)
- Facial palsyHPOHP:0010628
- Occasional (5% to 29% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Occasional (5% to 29% of cases)
Show the remaining 2
- Visual impairmentHPOHP:0000505
- Occasional (5% to 29% of cases)
- Increased bone mineral densityMondoHP:0011001
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of