campomelia, Cumming type
MONDO:0008896Mondo
Findings
No curated finding names campomelia, Cumming type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008896), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
26 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 rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of the pancreasHPOHP:0001732
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Clubbing of toesHPOHP:0100760
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Pancreatic cystsHPOHP:0001737
- Very frequent (80% to 99% of cases)
- Prematurely aged appearanceHPOHP:0007495
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Abnormal thorax morphologyHPOHP:0000765
- Frequent (30% to 79% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- Frequent (30% to 79% of cases)