Cooper-Jabs syndrome

Cooper-Jabs syndrome is a rare multiple malformation syndrome that was described in two sisters. People with this condition have atresia of the auditory canal (a blockage in the ear), a ventricular septal defect (a hole in the central wall of the heart), an anteriorly displaced anus, mild clubfoot, and an intellectual deficit. The syndrome has been noted in a single family case study, and it is suspected to be inherited in an autosomal recessive pattern. This means that children may receive the condition if they inherit two copies of a gene responsible for the syndrome.

People with this condition typically have a blockage of the ear canal, a ventricular septal defect, an anteriorly displaced anus, mild clubfoot, and some level of intellectual difficulty. These symptoms form the group of physical features noted in the description of the syndrome.

The cause of Cooper-Jabs syndrome is believed to be genetic. It is likely inherited in an autosomal recessive manner, meaning that two copies of a responsible gene may be involved. However, specific genes have not been identified.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.