Conditions / Syndrome
childhood hypophosphatasia
info · Syndrome
A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12.
Signs and symptoms
- Bowdler spurs
- Carious teeth
- Craniosynostosis
- Skin dimple over apex of long bone angulation
- Short stature
- Seizure
- Myopathy
- Decreased circulating alkaline phosphatase activity
- Elevated urine pyrophosphate
- Elevated plasma pyrophosphate