Brain Calcification, Rajab Type

A rare, inherited disorder characterized by widespread calcifications of basal ganglia and cortex, developmental delay, small stature, retinopathy and microcephaly. The absence of progressive deterioration of the neurological functions is characteristic of the disease.

Epidemiology

The syndrome has been described in eight children from two interrelated families.

Etiology

Brain calcification, Rajab type is associated with a genetic locus on chromosome 2.

Genetic counseling

Transmission is autosomal recessive.