Williams Syndrome

Wow – it’s been a long time since I’ve had to describe Williams Syndrome. Over the years, my explanation has been compacted to, “Williams Syndrome is a chromosomal defect which causes many medical issues and developmental delays.” I’ll try to describe it a bit better for you.

Williams Syndrome (WS) is a micro deletion syndrome. The chromosome affected is #7. Individuals with WS are missing the chromosome. The deletion of the chromosome itself leads to numerous missing genes. One of these missing genes is the ELN gene, which produces elastin. Elastin allows our muscles and veins to constrict and expand as necessary for our organs to function properly.

Other missing genes adversely affect an individual’s ability to perform visual–spatial tasks. Others affect cognitive abilities, developmental disabilities, and can create behavioral characteristics that are common to those with WS.

Medical issues can include:

  • Heart
  • Kidney
  • Hypercalcemia
  • Dental
  • Musculoskeletal problems
  • Hyperacusis (sensitive hearing)
  • Overly social behaviors
  • Developmental delays
  • Cognitive disabilities
  • Visuospatial issues
  • As with any syndrome, medical issues vary in the degree of severity.

RJ and Williams Syndrome

RJ is in fact missing his #7 chromosome. The heart condition he has is called Supravalvular Aortic Stenosis (SVAS). He also has a dilated aortic root. RJ has many of the medical issues listed above. I’ll break his issues down for you:

  • SVAS
  • Dilated aortic root
  • Chronic high blood pressure
  • Chronic gastroesophageal reflux (GURD)
  • Chronic constipation
  • Hyperacusis (VERY sensitive hearing)
  • Low muscle tone
  • Abdominal migraines
  • Visuospatial problems
  • Developmental delays
  • Cognitive disabilities
  • Overly social behaviors
  • Most of them are self-explanatory. I’ll break a few of them down for you even more.


For some individuals, their sensitive hearing improves with age. Not so for RJ. He will tell you if an ambulance is coming before you hear it. He can hear someone’s alarm four floors down if we’re in a hotel. RJ can tell you if a fluorescent light bulb is ready to burn out. He can probably hear a cricket fart in the next county, but is gracious enough not to mention it to me. If we have a power outage, RJ panics. Not because the lights went out, but because when the power comes back on; things will make noise as they restart.

Along with the super sensitive hearing comes actual pain. Sirens, alarms, PA systems…these sounds actually hurt him. This can cause a major meltdown. Over the years, we’ve learned to deal with the meltdowns, and he is handling it better. Even so, I can tell when something is out of the normal by just looking at his face. I’m always on the defense when it comes to sound and RJ.

Visuospatial Problems

It’s interesting watching RJ walk into a new area, or taking him hiking. He has trouble transitioning from a carpeted floor onto a bare one. He will feel his way from one room to the next with his feet, sometimes hanging on to the wall. If we’re hiking, the uneven terrain makes for a slow trip. But, that’s okay. We’ll get there in our own good time.

Abdominal Migraines

I’m not sure if abdominal migraines are common for others with WS. They are horrid. A migraine is the contraction and expansion of blood vessels. If you have migraines, you know the pain I’m talking about. Now imagine getting them in your stomach. I’m shuddering just thinking about when he gets them. Ick. Let’s move on.

That’s that!!

Well, that’s my summary of Williams Syndrome. It’s much easier to say it’s a chromosomal defect, a missing chromosome, or even saying it’s a bent one. If you would like to learn more about Williams Syndrome, visit the Williams Syndrome Association at https://williams-syndrome.org