thoracomelic dysplasia
MONDO:0010116Mondo
Findings
No curated finding names thoracomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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 fibula morphologyHPOHP:0002991
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Very frequent (80% to 99% of cases)
- Diaphyseal undertubulationHPOHP:0005019
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Flat faceHPOHP:0012368
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
Show the remaining 6
- Low posterior hairlineHPOHP:0002162
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Round faceHPOHP:0000311
- Very frequent (80% to 99% of cases)
- Short ribsHPOHP:0000773
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: thoracomelic dysplasia
- Also called
- Rivera-Perez-Salas syndromethoracolimb dysplasia, Rivera type