chondroectodermal dysplasia with night blindness
Findings
No curated finding names chondroectodermal dysplasia with night blindness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.
Definition from the Mondo Disease Ontology (MONDO:0017869), read 2026-09-29. CC BY 4.0.
Features
28 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 dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormal hair morphologyHPOHP:0001595
- Very frequent (80% to 99% of cases)
- Abnormal patella morphologyHPOHP:0003045
- Very frequent (80% to 99% of cases)
- Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
- Congenital onychodystrophyHPOHP:0008394
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
Show the remaining 16
- Hyperconvex toenailHPOHP:0030055
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- Very frequent (80% to 99% of cases)
- Metaphyseal irregularityHPOHP:0003025
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Nail dystrophyHPOHP:0008404
- Very frequent (80% to 99% of cases)