Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: A possible example of the disorganisation mutant

Abstract

We report two brothers of Chinese origin who have an apparently unique syndrome of cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. Additional findings which were not common to both were aberrant digital appendages on the heel and thigh of one boy and an anterior sacral meningocele and dislocated hip in the other. Intelligence is normal in both. Both boys suffer from functional constipation but biopsy studies showed no evidence of Hirschsprung's disease. The parents, who are normal, are not related. Inheritance is probably autosomal or X linked recessive. A possible link with the disorganisation mouse mutant is discussed.