mesomelic dwarfism, Nievergelt type
MONDO:0008098Mondo
Findings
No curated finding names mesomelic dwarfism, Nievergelt type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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.
- Genu valgumHPOHP:0002857
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Metatarsus adductusHPOHP:0001840
- 2 of 2 reported patients
- Pes cavusHPOHP:0001761
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Abnormal fibula morphologyHPOHP:0002991
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Abnormal tibia morphologyHPOHP:0002992
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Mesomelic short statureHPOHP:0008845
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Radioulnar synostosisHPOHP:0002974
- Very frequent (80% to 99% of cases)
- Skin dimpleHPOHP:0010781
- Very frequent (80% to 99% of cases)
- Tarsal synostosisHPOHP:0008368
- Very frequent (80% to 99% of cases)
- Abnormality of the wristHPOHP:0003019
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: mesomelic dwarfism, Nievergelt type
- Also called
- Nievergelt syndrome