Auriculoosteodysplasia

Synonyms

Multiple osseous dysplasia, characteristic ear shape, and short stature
Auriculo-osteodysplasia

Overview

Auriculoosteodysplasia is a rare disorder characterized mainly by abnormal ears and multiple bone development anomalies and in this condition it is 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. 

Symptoms

  • Abnormal ears
  • Mild short stature
  • Multiple bone anomalies
  • Hip dysplasia
  • Dislocated elbow
  • Absent collar bone
  • Elongated earlobe
  • Abnormal collar bone
  • Abnormal forearm bone (radius)
  • Abnormality of the clavicle
  • Aplasia/Hypoplasia of the earlobes
  • Aplasia/Hypoplasia of the radius
  • Macrotia
  • Short stature

Resources

  • NIH