ATR-16 syndrome

ATR-16 is a congenital syndrome in which patients develop either an alpha thalassic trait or a mild hemoglobin H disease. In addition, severe mental retardation and sometimes nonspecific dysmorphic manifestations manifest. These dysmorphisms include mild hypertelorism, cleft palate, nose-root anomalies, small ears, short neck, microcephaly, dwarfism, clots, and in human patients hypospadias and cryptorchidism.

Cause of the syndrome are serious deletions in the chromosome region 16p13.3. The effect is the release of the alpha globin genes and numerous other genes.