Microspherophakia-metaphyseal dysplasia syndrome
ORPHA:2551· ICD-10 Q87.5
Definition
Microspherophakia - metaphyseal dysplasia is a very rare syndrome associating bone dysplasia with micromelic dwarfism and eye defects.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal