Syndrome (CHS) is a rare genetic disorder that is inherited
in an autosomal recessive manner. This means that
both parents are expected to be carriers of the abnormal
Persons with CHS have a range of medical problems, including
decreased pigment in the skin and eyes or albinism, a tendency
toward bleeding caused by a platelet dysfunction and recurrent
infections due to white cell abnormalities. Some individuals
also have neurologic problems, such as poor sensation in
their arms and legs.
Under a microscope, the white blood cells have giant granules
which are characteristic of the disease.