Childhood-onset hypophosphatasia

Orpha code: 247667OMIM code: 241510

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.

Disease data
Classification

Clinical subtype

Synonyms
Childhood-onset Rathbun disease
Choroba Rathburna o początku w wieku dziecięcym
Fosfoetanoloaminuria o początku w wieku dziecięcym
Childhood-onset phosphoethanolaminuria
ORPHA code
247667
OMIM code
241510
ICD10 code
E83.3
ICD11 code
-

No additional description.

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