Orphanet: Childhood onset hypophosphatasia
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Childhood-onset hypophosphatasia

Disease definition

A rare, moderate form of hypophosphatasia (HPP) characterized by onset after six months of age and widely variable clinical features from low bone mineral density for age, to unexplained fractures, skeletal deformities, and rickets with short stature and waddling gait.

ORPHA:247667

Classification level: Subtype of disorder
  • Synonym(s):
    • Childhood-onset Rathbun disease
    • Childhood-onset phosphoethanolaminuria
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood, Infancy
  • ICD-10: E83.3
  • OMIM: 241510
  • UMLS: C0220743
  • MeSH: -
  • GARD: 8735
  • MedDRA: -

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