Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

*
(*) mandatory field





 

Other search option(s)

Auriculoosteodysplasia

Orpha number ORPHA114
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
ICD-10
  • Q87.5
ICD-O -
OMIM
UMLS
  • C1862381
MeSH
  • C538271
MedDRA -

Summary

Auriculoosteodysplasia is 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. The disorder has been observed in numerous members of two families. Dysplasia of the radiocapitellar joint was a constant finding in all affected individuals. Transmission is autosomal dominant.


(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.


Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.