The gene responsible for Paine syndrome has not been identified, but is believed to lie on the X chromosome. For this reason, the disease is referred to as an X-linked genetic condition. Only males are affected. Females do not usually develop the symptoms of Paine syndrome but they may be carriers of the gene associated with the disease. This is because women have two X chromosomes, while men only possess one. Even if a woman possesses the gene for Paine syndrome on one of her X chromosomes, she still has a second X chromosome that is free of the faulty gene. This second X chromosome is what protects her from developing symptoms of Paine syndrome, though she may be able to transmit the disease to her children.
Paine syndrome is a rare, congenital disease that only affects males. Most children born with it do not survive infancy.
Signs and symptoms
The most visible symptom of Paine syndrome is often the size of the head, which is smaller than normal. Affected infants may experience feeding difficulties or swallowing problems. They may not appear to be growing properly or may seem disinterested in their environment. The development of motor skills and speech is delayed.
In simple terms, Paine syndrome causes structural abnormalities in the cerebellum, cerebrum, and other parts of the brain. The skull itself is abnormally small, due to the fact that its size is dictated by brain growth. Damage to the optic nerve may also occur. In addition, Paine syndrome produces elevated amino acid levels in the urine and cerebrospinal fluid.