WILLIAMS SYNDROME

CAUSE
Williams syndrome is a genetic condition that affects many parts of the body.
Williams syndrome is caused by a person missing more than 25 genes from a specific area of
chromosome 7 (a "deletion"). The loss of these genes contributes to the characteristic features.
Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and
occur sporadically in people with no family history of Williams syndrome.

SIGN AND SYMPTONS

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.
Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive
facial features; and heart and blood vessel problems.
Growth Problem: Babies born with Williams syndrome can be very small. They may have trouble eating,
and might not gain weight or grow as quickly as other children. As adults, they are often shorter than
most people.
Other Possible Symptoms:
-Curved spine, called scoliosis
-Ear infections
-Early puberty
-Farsightedness
-Hernia
-High levels of calcium in the blood
-Hoarse voice
-Joint and bone problems
-Kidney problems
-Urinary tract infections
DIAGNOSIS
Williams syndrome is usually diagnosed before a child is 4 years old. Your doctor will do an exam and ask
about your family medical history. Then the doctor will look for facial features like an upturned nose,
wide forehead, and small teeth. An electrocardiogram (EKG) or ultrasound can check for heart problems.

A bladder and kidney ultrasound can check for urinary tract conditions.

Your child might get a blood test called FISH, or fluorescence in situ hybridization, to see if any genes are
missing. Most people with Williams syndrome will not have the ELN gene.

TREATMENT
Many different caregivers can be involved in taking care of your child, including a:

Cardiologist -- a doctor who treats heart problems

Endocrinologist -- a doctor who treats hormone problems
Gastroenterologist -- a doctor who treats gastrointestinal problems
Ophthalmologist -- a doctor who treats eye problems
Psychologist
Speech and language therapist
Occupational therapist
Physical therapist
Some of the treatments your child might need:

A diet low in calcium and vitamin D to bring down high calcium levels in the blood
Medicine to lower blood pressure
Special education, including speech and language therapy
Physical therapy
Surgery to fix a blood vessel or heart problem Your child might need treatments for other symptoms, too

PROGNOSIS
Most people with Williams syndrome have a normal life expectancy, but some may have a reduced life
expectancy due to complications of the disease (such as cardiovascular problems). Oftentimes, people
with Williams syndrome will need additional support as they grow into adults