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Humerus trochlea aplasia

Disease definition

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.

ORPHA:3383

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q74.0
  • OMIM: 191000
  • UMLS: C1860773
  • MeSH: -
  • GARD: 2750
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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