Zunich-Kaye

Zunich-Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. It is also referred to as CHIME syndrome, after its main symptoms (colobomas, heart defects, ichthyosiform dermatosis, mental retardation, and either ear defects or epilepsy). It is a congenital syndrome with only a few cases studied and published.

Zunich-Kay syndrome is considered to have an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required to inherit the disorder. The parents of an individual with autosomal recessive disorder both carry one copy of the defective gene, but usually do not have the disorder.