Cataract-Intellectual Disability-Hypogonadism Syndrome

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

Epidemiology

Less than 20 cases have been described in the literature so far.

Clinical description

Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears).

Etiology

Mutations in the RAB3GAP2 gene have been identified in some patients.

Genetic counseling

Transmission is autosomal recessive.