Orphanet: Prenatal benign hypophosphatasia
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Prenatal benign hypophosphatasia

Disease 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.

ORPHA:247638

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

Detailed information

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