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Acroosteolysis dominant type

Disease definition

A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ORPHA:955

Classification level: Disorder
  • Synonym(s):
    • Acrodentoosteodysplasia
    • Acroosteolysis with osteoporosis and changes in skull and mandible
    • Arthrodentoosteodysplasia
    • Cheney syndrome
    • Hajdu-Cheney syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: M89.5
  • OMIM: 102400  102500
  • UMLS: C0917715  C2930971
  • MeSH: C531695  C535663  D031845
  • GARD: 508
  • MedDRA: -

Detailed information

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