craniometadiaphyseal dysplasia, wormian bone type
Findings
No curated finding names craniometadiaphyseal dysplasia, wormian bone type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.
Definition from the Mondo Disease Ontology (MONDO:0010014), read 2026-09-29. CC BY 4.0.
Features
27 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 diaphysis morphologyHPOHP:0000940
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormal temporal bone morphologyHPOHP:0009911
- Very frequent (80% to 99% of cases)
- Abnormality of skull ossificationHPOHP:0002703
- Very frequent (80% to 99% of cases)
- Broad femoral neckHPOHP:0006429
- Very frequent (80% to 99% of cases)
- Broad ribsHPOHP:0000885
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Obtuse angle of mandibleHPOHP:0005446
- Very frequent (80% to 99% of cases)
- OsteopeniaHPOHP:0000938
- Very frequent (80% to 99% of cases)
- Overtubulated long bonesHPOHP:0006391
- Very frequent (80% to 99% of cases)
- Parietal bossingHPOHP:0000242
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: craniometadiaphyseal dysplasia, wormian bone type
- Also called
- Schwartz-Lelek syndrome