Perinatal lethal hypophosphatasia
Perinatal lethal hypophosphatasia
Definition
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.
Also known as HPPN, perinatal lethal phosphoethanolaminuria, perinatal lethal Rathburn disease — per MONDO