Orphanet: Auriculoosteodysplasia
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Auriculoosteodysplasia

Disease definition

A very rare condition characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and somewhat short stature.

ORPHA:114

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.5
  • ICD-11: LD24.E
  • OMIM: 109000
  • UMLS: C1862381
  • MeSH: C538271
  • GARD: 8663
  • MedDRA: -

Summary

Epidemiology

The disorder has been observed in numerous members of two families.

Clinical description

Dysplasia of the radiocapitellar joint was a constant finding in all affected individuals.

Genetic counseling

Transmission is autosomal dominant.

- Last update: March 2008

  A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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