Conditions / Syndrome
infantile hypophosphatasia
info · Syndrome
A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36.
Signs and symptoms
- Decreased circulating alkaline phosphatase activity
- Phosphoethanolaminuria
- Nephrocalcinosis
- Abnormality of the dentition
- Micromelia
- Seizure
- Bowdler spurs
- Decreased calvarial ossification
- Hypotonia
- Elevated urine pyrophosphate
Also known as: HOPS; HPPI; phosphoethanolaminuria