rhizomelic chondrodysplasia punctata
MONDO:0015776Mondo
Findings
No curated finding names rhizomelic chondrodysplasia punctata yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.
Definition from the Mondo Disease Ontology (MONDO:0015776), read 2026-09-29. CC BY 4.0.
Features
21 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- CataractHPO · MondoHP:0000518
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- EpicanthusHPOHP:0000286
- Very frequent (80% to 99% of cases)
- Epiphyseal stipplingHPOHP:0010655
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- RhizomeliaHPO · MondoHP:0008905
- Very frequent (80% to 99% of cases)
Show the remaining 9
- ScoliosisHPOHP:0002650
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Frequent (30% to 79% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Frequent (30% to 79% of cases)
- Spina bifida occultaHPOHP:0003298
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: rhizomelic chondrodysplasia punctata
- Also called
- RCDPrhizomelic chondrodysplasia punctata syndromerhizomelic dwarfism