WILLIAMS SYNDROME

SYMPTOMS

Williams disorder may cause delayed development. The condition found in early childhood or infancy. Not all individuals with Williams disorder will have similar manifestations.

Symptoms may include the following:

• Cardiovascular disease, in the form of narrowed blood vessels, pulmonic stenosis and supravalvular aortic stenosis,
• Characteristic facial features like full cheeks, wide mouth, prominent lips, small jaw, large ears, short/upturned nose, epicanthal folds
• Feeding difficulties in infancy, often leading to poor growth
• Shorter than average height
• Low body tone (hypotonia) and hyperextensible joints, which may result in delayed developmental milestones such as sitting and walking
• Unique personality traits: overly friendly (lack of “stranger danger”), attention problems, excessive empathy, specific phobias, anxiety
• Sleep problems
• Speech delay in early childhood, although speech later becomes a relative strength
• Intellectual disability, usually in the “mild” range
• Endocrine abnormalities: elevated calcium level (particularly in infancy), hypothyroidism, early puberty, diabetes in adulthood
• Farsightedness and/or eyes which do not align
• Chronic ear infections and/or hearing loss
• Dental abnormalities, such as poor enamel and small or missing teeth
• Scoliosis (abnormal curvature of the spine)
• Unsteady gait and/or tremor in adulthood

DIAGNOSIS

If an individual is suspected to have Williams disorder, the person in question is observed by a medical geneticist as referred by pediatricians or cardiologists.

During the genetic assessment, the geneticist will do an extensive test to search for physical qualities of the condition. The geneticist may likewise:

• Request an EKG or echocardiogram (ultrasound of the heart) to check the heart for anomalies
• Check blood pressure strain and kidneys
• Suggest genetic testing through a blood test

TREATMENT

If somebody is found to have Williams disorder based on findings and a genetic test outcome, health professionals will  help disclose the diagnosis to the patient and their family.

In spite of the fact that there is no treatment for Williams disorder, it is imperative to distinguish and treat the diverse clinical problems that can happen with this disease. Medicines and treatments must be founded on the needs of the person.