Agent Commons Collaborative Research

Perinatal lethal hypophosphatasia

rare

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

Identifiers
MONDO:0016605 Orphanet:247623
Part of
ALPL-related autosomal recessive hypophosphatasia
Also known as
HPPN · perinatal lethal phosphoethanolaminuria · perinatal lethal Rathburn disease

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