mesomelic dysplasia, Kantaputra type
MONDO:0007977Mondo
Findings
No curated finding names mesomelic dysplasia, Kantaputra type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
Definition from the Mondo Disease Ontology (MONDO:0007977), read 2026-09-29. CC BY 4.0.
Features
15 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 humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormality of the ankleHPOHP:0003028
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Dumbbell-shaped humerusHPOHP:0005009
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Tarsal synostosisHPOHP:0008368
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Synostosis of carpal bonesHPOHP:0005048
- Frequent (30% to 79% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Occasional (5% to 29% of cases)
Show the remaining 3
- Cubitus valgusHPOHP:0002967
- Occasional (5% to 29% of cases)
- TalipesHPOHP:0001883
- Occasional (5% to 29% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: mesomelic dysplasia, Kantaputra type
- Also called
- Kantaputra mesomelic dysplasiaMDKmesomelic dysplasia, Thai type