Astley-Kendall dysplasia
MONDO:0019408Mondo
Findings
No curated finding names Astley-Kendall dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Astley-Kendall dysplasia is a lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
Definition from the Mondo Disease Ontology (MONDO:0019408), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Abnormality of skull ossificationHPOHP:0002703
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
- Epiphyseal stipplingHPOHP:0010655
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of