Abruzzo-Erickson syndrome

Abbotzo-Erickson syndrome describes the combination of cleft palate, hypospadias, heaviness, short stature, coloboma, large and protruding ears, and radio-ulnar synostosis. 

The syndrome was found in four individuals in a single family. The family members all had different clinical manifestations of the disease.

It is thought that the syndrome is inherited as an X-chromosome-linked, recessive trait.