Autosomal dominant transmision.  Malformative syndrome associating a coloboma of the iris, a nystagmus, obesity, digital malformations and mental retardation.

Clinical presentation:

-        type 1: strabismus, nystagmus, cerebellar ataxia, brachydactyly, mental retardation  [MIM 113 400];

-         type 2: coloboma, obesity, polydactyly, hypogenitalism, mental retardation.

Anesthetic implications: 

Difficult venous access, obesity.

Updated: November 2019