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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:114Classification level: Disorder
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.
A summary on this disease is available in Deutsch (2008) Español (2008) Français (2008) Italiano (2008) Nederlands (2008)
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