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Angel-shaped phalango-epiphyseal dysplasia

Disease definition

A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ORPHA:63442

Classification level: Disorder
  • Synonym(s):
    • ASPED
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: Q78.8
  • OMIM: 105835
  • UMLS: C1739384
  • MeSH: -
  • GARD: 671
  • MedDRA: 10066017
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