Cooper-Jabs syndrome
Cooper-Jabs syndrome
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.
Also known as aural atresia-multiple congenital anomalies-intellectual disability syndrome — per MONDO