Conditions / Syndrome
adult hypophosphatasia
info · Syndrome
A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12.
Signs and symptoms
- Phosphoethanolaminuria
- Abnormal foot morphology
- Carious teeth
- Decreased circulating alkaline phosphatase activity
- Arthropathy
- Rickets
- Osteomalacia
- Chondrocalcinosis
- Recurrent fractures
- Increased susceptibility to fractures
Also known as: mild hypophosphatasia