Occipital horn syndrome

Definition

A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.

Disease data

Classification

Disease

ORPHA code

198

OMIM code

304150

ICD10 code

E83.0

ICD11 code

*Soruce