Prenatal benign hypophosphatasia
ORPHA:247638· ICD-10 E83.3
Definition
A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal