An Overview of William’s Syndrome
William’s syndrome is a rare condition that is caused by missing certain genes. The disorder occurs randomly, without any known causes or family history of the condition. However, a person suffering from William’s syndrome as a 50% chance of passing the disorder to each of their children. The syndrome occurs in about 1 out of 8,000 births.
William’s syndrome is characterized by an extremely social personality, infatuation with faces, and a small brain size. Symptoms include delayed speech that may later turn into a strong speaking ability and strong learning by hearing, developmental delay, attention deficit disorder (ADD), feeding problems, inward bend of the small finger, mild to moderate mental retardation, being very friendly and easily trusting strangers, sunken chest, and an unusual appearance of the face including a flattened nasal bridge, long ridges in the skin from the nose to the upper lip, prominent lips, skin that covers the inner corner of the eye and partially missing teeth. Most of these symptoms begin at birth and are thus easily seen early on.
Because many people who have William’s syndrome also experience cardiovascular problems, it is extremely important to consultant a doctor at the onset of symptoms. Other signs of the syndrome include farsightedness, high blood pressure and high blood calcium levels.
Diagnosis for the syndrome includes a blood pressure check, blood test form missing chromosomes (FISH test), echocardiography, a Doppler ultrasound and possibly a kidney ultrasound.
Currently there is no known cure for William’s syndrome. Medications can treat high levels of blood calcium and high blood pressure. Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy are also very beneficial to patients. There are also many support groups and organizations to help patients and their families cope.
