Prenatal benign hypophosphatasia

Orpha code: 247638OMIM code:

Definicja

A very rare form of hypophosphatasia characterized by prenatal skeletal manifestations (limb shortening and bowing) that slowly resolve spontaneously and later may develop into the moderate childhood or adult forms of the disease.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
Prenatal benign Rathbun disease
Prenatalna łagodna choroba Rathburna
Prenatalna łagodna fosfoetanoloaminuria
Prenatal benign phosphoethanolaminuria
Kod ORPHA
247638
Kod OMIM
-
Kod ICD10
E83.3
Kod ICD11
-

No additional description.

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