Orphanet: Perinatal lethal hypophosphatasia

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Perinatal lethal hypophosphatasia

Disease 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.


Classification level: Subtype of disorder
  • Synonym(s):
    • Perinatal lethal Rathbun disease
    • Perinatal lethal phosphoethanolaminuria
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: E83.3
  • OMIM: 241500
  • UMLS: C2673477
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public


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