Deaf Blind Hypopigmentation Syndrome, Yemenite Type

Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.

Epidemiology

The syndrome was described in 1990 in two patients from the same Yemenite family.

Clinical description

A brother and sister were described as having cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma, and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous.

Etiology

The cause of this syndrome has not been determined.

Genetic counseling

The inheritance pattern appears to be autosomal recessive.