Childhood hypophosphatasia is a form of hypophosphatasia, a rare condition that affects the bones. Childhood hypophosphatasia, specifically, is generally diagnosed when the condition develops after six months of age but before adulthood. Signs and symptoms vary but may include delayed motor milestones; low bone mineral density for age; early loss of baby teeth (before age 5); bone and joint pain; short stature; a waddling gait; skeletal malformations; and/or unexplained broken bones. The forms of hypophosphatasia that develop during childhood are generally more mild than those that appear in infancy. Childhood hypophosphatasia is caused by changes (mutations) in the ALPL gene and can be inherited in an autosomal dominant or autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person. Recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone symptoms in people with childhood hypophosphatasia and has been approved by the FDA.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Skin dimple over apex of long bone angulation|
|Substantia nigra gliosis|
|Pituitary null cell adenoma|
|Elevated plasma pyrophosphate|
|Elevated urine pyrophosphate|
|Expanded phalanges with widened medullary cavities|
|Aplasia/Hypoplasia of toe|
|Autosomal recessive inheritance|
|Bowing of the legs|
|Low alkaline phosphatase|
|Premature loss of primary teeth|
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