/cataract-intellectual disability-anal atresia-urinary defects syndrome

cataract-intellectual disability-anal atresia-urinary defects syndrome

Rare Disease

MONDO:0015324

Also Known As

Karandikar-Maria-Kamble syndromeKarandikar Maria Kamble syndromecataract intellectual disability anal atresia urinary defectscataract mental retardation anal atresia urinary defectscongenital cataract with multiple congenital anomalies in a sibship

Definition

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