Cooper-Jabs syndrome

Rare Disease

MONDO:0008850

Also Known As

aural atresia-multiple congenital anomalies-intellectual disability syndromeaural atresia, multiple congenital anomalies, and intellectual disabilityaural atresia, multiple congenital anomalies, and mental retardation

Definition

Cooper-Wang-Jabs syndrome is a multiple malformation syndrome characterized by atresia of the auditory canal together with ventricular septal defect, anteriorly displaced anus, mild clubfoot, and intellectual deficit. It has been described only once, in two sisters. The mode of inheritance is most likely autosomal recessive.