Childhood-onset hypophosphatasia
ORPHA:247667· ICD-10 E83.3
Definition
A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood, Infancy