mesomelic dwarfism, Reinhardt-Pfeiffer type
MONDO:0008618Mondo
Findings
No curated finding names mesomelic dwarfism, Reinhardt-Pfeiffer type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
Definition from the Mondo Disease Ontology (MONDO:0008618), read 2026-09-29. CC BY 4.0.
Features
13 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 morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Fibular hypoplasiaHPOHP:0003038
- Very frequent (80% to 99% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Radial head subluxationHPOHP:0003048
- Very frequent (80% to 99% of cases)
- Skin dimpleHPOHP:0010781
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Frequent (30% to 79% of cases)
- MyopiaHPOHP:0000545
- Occasional (5% to 29% of cases)
Show the remaining 1
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: mesomelic dwarfism, Reinhardt-Pfeiffer type
- Also called
- Reinhardt-Pfeiffer mesomelic dysplasiaReinhardt-Pfeiffer syndrome