Perinatal lethal hypophosphatasia

Orpha code: 247623OMIM code: 241500

Definition

A rare, genetic form of hypophosphatasia (HPP) characterized by markedly impaired bone mineralization <i>in utero</i> due to reduced activity of serum alkaline phosphatase (ALP) and causing stillbirth or respiratory failure within days of birth.

Disease data
Classification

Clinical subtype

Synonyms
Perinatal lethal Rathbun disease
Prenatalna śmiertelna choroba Rathburna
Prenatalna śmiertelna fosfoetanoloaminuria
Perinatal lethal phosphoethanolaminuria
ORPHA code
247623
OMIM code
241500
ICD10 code
E83.3
ICD11 code
-

No additional description.

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