mesomelic dwarfism-cleft palate-camptodactyly syndrome
Findings
No curated finding names mesomelic dwarfism-cleft palate-camptodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009589), read 2026-09-29. CC BY 4.0.
Features
17 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 hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Elbow dislocationHPOHP:0003042
- Very frequent (80% to 99% of cases)
- MesomeliaHPOHP:0003027
- Very frequent (80% to 99% of cases)
Show the remaining 5
- Overfolded helixHPOHP:0000396
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Pulmonary hypoplasiaHPOHP:0002089
- Frequent (30% to 79% of cases)
- Thin vermilion borderHPOHP:0000233
- Frequent (30% to 79% of cases)
- Vertebral segmentation defectHPOHP:0003422
- Frequent (30% to 79% of cases)
Where it sits
Other names
3 names
Resolves to: mesomelic dwarfism-cleft palate-camptodactyly syndrome
- Also called
- mesomelic dysplasia, Kozlowski-Reardon typemesomelic dysplasia, Reardon typeReardon-Hall-Slaney syndrome