Astley-Kendall dysplasia
ORPHA:85175· ICD-10 Q77.3
Definition
A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal