No parent wants to watch their child experience discomfort or challenges due to pediatric genetic disorders, but identifying a condition like Williams syndrome early on is critical to a favorable outcome. What is Williams syndrome? What’s trisomy 7? Are there any Williams syndrome treatments? Here are the answers that every parent needs when confronted with the possibility that their child might be diagnosed with this pediatric genetic condition.
What Is Williams Syndrome?
Williams syndrome, or Williams-Beuren syndrome, is a genetic condition that can impact a variety of areas of a child’s life, including their physical appearance, endocrine system, development, cognitive abilities, and cardiovascular system. This condition is rare and occurs in approximately 1 in every 10,000 births in America.
What is Williams syndrome in appearance? Abnormalities with chromosome 7 lead to this disease. Unlike some genetic disorders, in most cases, Williams disease happens due to a genetic abnormality and not parent-child transmission. However, those with this condition have a 50% chance of birthing children who will have the same condition.
What Are the Symptoms of Williams Syndrome?
Children born with Williams syndrome are often diagnosed because of their unique physical appearance, which leads doctors to perform additional testing. Children typically have puffiness around their eyes, a flat bridge of the nose, a small chin, a large forehead, and round cheeks. As people with abnormalities to chromosome 7 age, their adult teeth will often look very similar to baby teeth and be small, crooked, or missing entirely.
Those with Williams disease also often have a distinct personality and unique learning difficulties. Music, spoken language, and memorization are usually not issues, but tasks that involve visual-spatial recognition, like completing a puzzle, are very challenging. Children with this condition are eager to learn about other people and typically very outgoing.
Beyond those physical and personality characteristics, some medical differences make Williams syndrome treatments essential, including:
- Supravalvular aortic stenosis, or a narrowing of the aorta that can lead to eventual heart failure, chest pain, and issues with the cardiovascular system
- Colic
- Joint problems
- Chronic ear infections or hearing loss
- Loose skin
- Pinky fingers that bend inward
- Low birth weight
- High levels of calcium in the blood
- Developmental delays
- Short height
- Kidney problems
- Urinary issues
- Vision problems
- Scoliosis
- Issues with coordination
Because of the wide range of consequences and symptoms possible with chromosome 7 defects, seeking treatment for Williams syndrome is very important. When you are considering what is Williams syndrome for diagnosis, the doctor will perform a lab test known as fluorescent in situ hybridization to examine the gene sequence. In the vast majority of cases, diagnosis is performed before a child turns four.
What’s Trisomy 7?
Many parents whose children are diagnosed with Williams disease find themselves wondering, “What’s trisomy 7?” Trisomy is used to refer to children who have an extra chromosome in some or all of their cells. Instead of having two copies of a chromosome, children will have three. For example, in Down syndrome, children have three copies of chromosome 21, so it is referred to as trisomy 21.
Trisomy 7 is different from Williams syndrome, and if you are wondering, “What’s trisomy 7?” there is a good chance that your child does not have it because it is oftentimes diagnosed immediately. Trisomy 7 is usually lethal during embryo development, and children who are born have chromosomal mosaicism.
Unlike Williams disease, trisomy 7 adds to the chromosome instead of taking away from it. What is Williams syndrome on a chromosomal level? 25-27 genes are deleted, including the GTF2I, GTF2IRD1, LIMK1, and ELN genes. Depending on your child’s situation, chromosome 7 might have different genes missing and others present. What’s trisomy 7 on a chromosomal level? Three copies of chromosome 7 instead of two.
Are There Williams Syndrome Treatments?
Unfortunately, like many genetic conditions, there is no cure for Williams disease. Instead, Williams syndrome treatments focus on symptoms and potential consequences of the condition. For example, if your child has vision problems, they can be corrected with eyeglasses. If your child has supravalvular aortic stenosis, the doctors will regularly examine their entire cardiovascular system to keep track of problems and determine the best solution.
When your child is diagnosed with it, the doctor will walk you through all of the Williams syndrome treatments appropriate for their situation. Because symptoms can vary a great deal, the treatments that are appropriate for one child may be very different from treatments that are appropriate for another. Some of the treatments that could be suggested include:
- Physical therapy
- Interventional education, like speech therapy
- A diet with lower levels of calcium and vitamin D
- Blood pressure medication
- Surgery to lessen blood vessel or cardiovascular problems
How Can the Williams Condition Impact Your Child’s Life?
There are a few big concerns that many doctors have when a child is diagnosed with Williams syndrome. Kidney problems, narrow blood vessels, and cardiovascular issues can all decrease life expectancy, even in the event that treatment is provided. Many children who have abnormalities to the seventh chromosome will experience a certain level of intellectual disability throughout their lives.
Early diagnosis improves treatment outcomes and helps ensure that your child will have the best life possible. Because symptoms can manifest so differently, some children will be able to live lives very close to the lives of children who are not diagnosed with the syndrome. However, others with more severe manifestations of the disease may require long-term medical care and have a shorter life expectancy.
Is There Any Way to Prevent Problems with the Seventh Chromosome?
Despite a wealth of research, there is no way that scientists currently know of to prevent a child from being born with Williams sydrome. Because 50% of parents will pass it onto their child, genetic counseling is recommended before conception. However, if you have no family history of issues with the seventh chromosome, there is nothing you can do to prevent it from happening. Instead, you can merely act fast if you notice the symptoms.
Are You Concerned That Your Child Has a Genetic Condition? Call the Pediatric Endocrine and Metabolic Center of Florida Today
Realizing that something might be different about your child is overwhelming, and many families are not sure who to trust and how to get testing, treatment, and support. The Pediatric Endocrine and Metabolic Center of Florida is a trusted resource for parents and families who are in situations similar to yours and facing uncertainty. Your family and your child deserve support as you go through the diagnosis process.
Has your child received a diagnosis of Williams Condition already? The Pediatric Endocrine and Metabolic Center of Florida can be a critical part of their care team and ensure that they have access to the therapies and surgery that they need to thrive. If you are interested in scheduling an appointment or learning more about how we can assist you, contact us today by calling (772) 834-7362 or using the button above to request an appointment.