odontochondrodysplasia 1
MONDO:0100325Mondo
Findings
No curated finding names odontochondrodysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.
Definition from the Mondo Disease Ontology (MONDO:0100325), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
28 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.
- BrachydactylyHPOHP:0001156
- 10 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 10 of 10 reported patients
- Spondylometaphyseal dysplasiaHPOHP:0002657
- 10 of 10 reported patients
- Short statureHPOHP:0004322
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Very frequent (80% to 99% of cases)
- Dentinogenesis imperfecta
Show the remaining 16
- Coxa valgaHPOHP:0002673
- Frequent (30% to 79% of cases)
- Delayed eruption of teethHPOHP:0000684
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- 5 of 10 reported patients
- Frequent (30% to 79% of cases)
- Square pelvis boneHPOHP:0003278
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- 4 of 10 reported patients
- Bowing of the long bonesHPOHP:0006487
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
4 names
Resolves to: odontochondrodysplasia 1
- Also called
- chondrodysplasia-dentinogenesis imperfecta-joint laxity syndromeGoldblatt chondrodysplasiaGoldblatt syndromeODCD