Auriculoosteodysplasia
ORPHA:114· ICD-10 Q87.5
Definition
A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal