spondylometaphyseal dysplasia, A4 type
MONDO:0012185Mondo
Findings
No curated finding names spondylometaphyseal dysplasia, A4 type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
8 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.
- Coxa varaHPOHP:0002812
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Spondylometaphyseal dysplasiaHPOHP:0002657
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Frequent (30% to 79% of cases)
- Flared, irregular rib endsHPOHP:0006603
- Occasional (5% to 29% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Occasional (5% to 29% of cases)
Where it sits
- A kind of