Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome

Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies.

Epidemiology

It has been described in three siblings born to nonconsanguineous parents.

Genetic counseling

It is likely to be transmitted as an autosomal recessive trait.

Management and treatment

The patients underwent surgery for imperforate anus and cataract.