Medical Term:

otospondylomegaepiphysial dysplasia

 

Definition: a skeletal dysplasia inherited as an autosomal recessive, caused by a mutation in the COL11A2 gene; characterized by short stature, large epiphyses, vertebral anomalies, and sensorineural deafness.

See Also: chondrodystrophy with sensorineural deafness

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