parastremmatic dwarfism
MONDO:0008196Mondo
Findings
No curated finding names parastremmatic dwarfism yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
Definition from the Mondo Disease Ontology (MONDO:0008196), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
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.
- Bowing of the long bonesHPOHP:0006487
- 3 of 3 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients
- Genu valgumHPOHP:0002857
- 3 of 3 reported patients
- KyphosisHPOHP:0002808
- 3 of 3 reported patients
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
- Severe short statureHPOHP:0003510
- 3 of 3 reported patients
- Short neckHPOHP:0000470