Dorfman Chanarin syndrome

The Dorfman Chanarin syndrome - A very rare, autosomal recessive genetic disorder affecting fat metabolism (see lipidosis). The disease is congenital (present from birth).

It is characterized by ichthyosis (thickened, scaly skin); myopathy (degeneration of muscle), and sometimes also defects in vision and in hearing. Blood tests show abnormal white blood cells containing vacuoles (tiny spaces) filled with fat.