Prenatal benign hypophosphatasia

Orpha code: 247638OMIM code:

Definition

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
Classification

Clinical subtype

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

No additional description.

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