Williams syndrome, a rare genetic disorder, requires early diagnosis and multidisciplinary management to optimize patient outcomes. How will this impact your practice?
Williams syndrome is a rare genetic disorder that presents at birth with physical abnormalities and sometimes cognitive, cardiovascular and hormonal abnormalities. This rare disease is also known as Williams-Beuren syndrome, and it is typically diagnosed shortly after birth due to hallmark facial features, which are often described as “elf-like.”
Telltale signs of Williams syndrome in children are a wide mouth, pointy ears, an upturned nose and congenital heart defects. In adulthood, individuals tend to have a short stature. Less obvious traits or Williams syndrome are early puberty, too much calcium in the blood, and hypothyroidism.
William syndrome is caused by the deletion of chromosome 7q11.23, and it comprises 26 different gene expressions. While most people haven’t inherited the condition, individuals with it have a 50% chance of passing it on to their children. The prevalence of Williams syndrome is not well known, but it is believed to affect between 1 in 7,500 to 1 in 20,000 children.
The rare disease was named for cardiologist Dr. John Cyprian Phipps Williams, who was the first to describe the syndrome in 1961. In 1962, German physician Dr. A. J. Beuren discovered similar symptoms in three different patients, and the rare disorder was officially named Williams-Beuren syndrome.
Williams syndrome presents physically, but lab work can further confirm a diagnosis. These labs can reveal an underactive thyroid or elevated calcium levels (hypercalcemia).
Children may experience challenges and developmental delays, but Williams syndrome has little effect on life expectancy. Some children may have birth defects that affect their hearts, but these are often able to be corrected or managed. In cases of delays and physical abnormalities, early detection and treatment can allow children to reach their potential. A common characteristic is a child walking later due to having loose joints. They may also be highly social and exhibit advanced speech abilities, which may hide any cognitive or intellectual challenges, and they often have a great long-term memory.
Children with Williams syndrome will most likely need routine CBC panels and urine tests to make sure they stay healthy, since their kidneys and hormones may be impacted.
Your child’s provider may suspect Williams syndrome upon examination, and from there may order a battery of tests to confirm the diagnosis. These tests include a genetic chromosomal microarray (CMA) and fluorescence in situ hybridization (FISH test). Your pediatrician may order other tests to check for irregularities, including an EKG or echocardiogram, as well as blood work and a urine sample. If you suspect your child may have delays, be sure to bring it up with your pediatrician. An early Williams syndrome diagnosis is important for leading a normal life.
Williams syndrome treatment is about managing the symptoms. With that in mind, the following doctors may be a part of your child’s care team:
According to Connie Domingo, MD, the medical director of Weisman Children’s Rehab Center, the type of treatment and its success can vary based on the patient. She says “With supportive family and community services, many children with Williams syndrome will be able to manage their symptoms, but each case is different.”
A child with Williams syndrome may benefit from educational support, including an IEP (individualized education program). Programs tailored towards social skills training would also be beneficial, since individuals with the disorder are highly social.
The Williams Syndrome Association is a valuable informational tool for families. From there, families can find local resources and support groups that connect them with others also facing a rare diagnosis. The WSA also offers webinars and up-to-date information.
Current Williams Syndrome research studies focus on aging, motivation mastery, and the effectiveness of behavioral play therapy. More info can be found on the Williams Syndrome Association’s website.
Williams Syndrome is caused by missing chromosome 7. Though it isn’t considered hereditary, parents with Williams syndrome have a 50% chance of having children with it.
Typically, first with a physical exam. If your doctor suspects the condition based on physical attributes, genetic testing and hormonal testing may be ordered.
The first signs of Williams syndrome can be seen on the individual’s face—an upturned nose, wide smile, and small or missing teeth. A child may also be delayed in walking and other physical milestones. Further testing can reveal heart defects, hormonal abnormalities, and other symptoms of Williams syndrome.
Families can take advantage of support groups and various therapies so that their child can lead a fulfilling life.
Treating Williams syndrome is more about managing symptoms, such as the heart defects or behavioral challenges.
William syndrome is a rare disorder caused by a missing chromosome. Despite the physical and hormonal aspects of the condition, individuals with the diagnosis can lead fulfilling lives. The key is early intervention for behavior and cognitive challenges, as well as addressing any concerns with joints and mobility.
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