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Williams Disease: Symptoms and Causes

Medically reviewed by Sandeep Dhanyamraju
Medically reviewed by Sandeep Dhanyamraju

Williams syndrome is a genetic disease diagnosed among people of both sexes. The first signs of pathology can be in newborns. And with adulthood, the symptoms become more pronounced. Usually, doctors diagnose Williams disease at an early age of kids. It has the following symptoms:

 

  • Mild or moderate intellectual disability;
  • Slow development of motor skills;
  • High blood pressure.

 

Symptoms of it can be in different parts of the body. It can be about face, heart, and personality. People with Williams syndrome can have a delay in mental development. But at the same time, they tend to show extreme interest in other people. The cause of this syndrome is a chromosomal mutation. That is, a child is born without specific genes.

It usually happens during the formation of an egg cell or sperm. In some cases, this disease inherits from the affected father in an autosomal dominant manner. Doctors define this diagnosis by paying attention to symptoms and genetic testing.

 

What is Williams Disease?

Williams disease is a developmental disorder that affects many parts of the body. This disease is characterized by:

 

  • Distinctive external signs;
  • Impaired cognitive development; 
  • Cardiovascular abnormalities. 

 

It can happen due to the mutation of genes meiosis. The mutation leads to the loss of 1.6-1.8 million pairs of nucleotides from the gene chain. People with Williams syndrome can have a different number of genes. The intensity of symptoms and their nature depend on this indicator. 

A person has about 25,000 genes in their body. And it is enough to remove 30 of them, as a person’s life and health completely change. One example is Williams syndrome. It is a genetic disease caused by the absence of several genes. Their number can vary from 25 to 29.

The disorder is equally common in both girls and boys. Despite the pronounced mental disabilty patients can reduce the symptoms of Williams syndrome. Corrective psychological work with such patients can significantly improve their quality of life. 

 

Williams syndrome in children can have different ways of manifestation. But one of the most noticeable symptoms is the “elf face.” It has:

  • Round nose;
  • Enlarged mouth;
  • Plump lips;
  • Full cheeks;
  • Small pointed chin.

Treatment of this syndrome is symptomatic. To end congenital heart defects, doctors perform some surgical interventions. And to improve the patient’s social life, doctors conduct psychological sessions.

 

Symptoms of Williams Syndrome

Symptoms of Williams Syndrome

The manifestations of the disease depend on the absence of specific genes. So, the symptoms can be different for everyone. They can affect both heart health and cognitive processes. Symptoms in children are noticeable from birth. But as soon as Williams syndrome begins to form, it acquires more pronounced symptoms:

 

Cardiovascular Symptoms

In most cases, a person with this disease has problems with the cardiovascular system. It manifests in the pulmonary artery. But, depending on the absence of specific genes, problems can arise in other arteries. Symptoms can be as follows:

  • Narrowing of the aorta;
  • Narrowing of blood vessels;
  • Arterial hypertension.

 

Neurological and Behavioral Symptoms

Williams syndrome in kids is characterized by dynamic behavior. Such children are highly sociable. But at the same time, they can have some neurological issues. So, neurological and behavioral symptoms include:

  • Mild or moderate intellectual disability;
  • Mental asymmetry. Difficulties can appear in the psychomotor area, while others remain intact;
  • A highly developed sense of musicality;
  • Slow development of motor skills and language aquisition.

 

Symptoms of the Musculoskeletal System

Young children with this condition often have weak muscles. There is also weakness in the joints. With age, this can turn into worse symptoms:

  • Problems with the spine;
  • Low muscle tone;
  • Relaxation or contractures in the joints;
  • There is no joint functioning.

 

Features Symptoms

Most people with Williams syndrome have similar facial features:

  • Short and slightly upturned nose;
  • Narrow forehead;
  • Growth of the skin around the eyes;
  • Bulging cheeks;
  • Small jaw;
  • Changed bite of the teeth.

 

Symptoms of the Genitourinary System

The absence of specific genes can cause weak functioning of some organs. It is for this reason that there can be such symptoms as:

  • Tendency to urinary infections;
  • Nephrocalcinosis;
  • A tendency to form abnormal cavities that form in the digestive system.

 

Symptoms of Human Development

Most people with Williams syndrome have some mental disability. 50% of children have attention deficit disorders:

  • There are problems in learning;
  • Cognitive impairments;
  • Different forms of walking learning;
  • Delay in the development of fine motor skills.

 

Eye Symptoms

Symptoms can also concern the eyes. The iris of the eyes has a blue color with a pronounced star pattern. It has a significant impact on health and includes the following problems:

  • Myopia;
  • Strabismus;
  • Star iris.

 

Endocrine and Metabolic Symptoms

Other manifestations of Williams syndrome are problems of the endocrine-metabolic system. The main symptom is an increased level of calcium in the blood. It can cause:

  • Delay in the development of the endocrine system;
  • Transient hypercalcemia in childhood.

 

Symptoms of the Auditory System

Williams syndrome has considerable hearing problems for kids. Children with this disease are much more sensitive to sounds than others. Specific frequencies or noises can be painful or annoying to them. With age, this feature disappears, but at a younger age, they have:

  • Increased sensitivity to sounds or hyperacusis;
  • Tendency to inflammation of the ears.

 

Williams Syndrome Causes

Scientists have not yet studied the causes of this disease. But the most important reason is the deletion of genetic material from a certain region of chromosome 7. It is known that the paired set of chromosomes in Williams syndrome preserves in a complete form:

 

  • Since the pathology usually occurs spontaneously, the condition is congenital and not hereditary. 
  • Only in rare cases is the disease hereditary. It is when at least one of the parents has Williams syndrome.
  • Such genetic anomalies usually arise due to a negative influence on the body of the child’s parents. For example, it can be living in a polluted environment, a harmful profession, etc. But such gene mutations can also appear without any plain reason. 

 

Besides all that, there is a lot of misinformation about Williams syndrome. There is information that one of the genes, which is not in the chromosome, is responsible for elastin synthesis. A lack of this protein can be one of the Williams syndrome causes. It includes stenosis, a tendency to suffer from hernias, or signs of premature aging.

Williams Syndrome

How does Williams Syndrome Affect My Child?

Williams syndrome can bring specific problems for kids. This syndrome causes other diseases in children from early childhood. It can affect the heart, kidneys, pressure, joints, etc. Symptoms begin to appear from childhood, which complicates the situation:

 

  • At first, the child has slow motor development. They learn to walk later than children usually do because they have joint problems. Also, this syndrome makes it difficult to understand speech.
  • The child can face cardia, liver, and kidney problems. Usually, doctors appoint this examination to prescribe treatment in advance. It helps prevent the development of cardiovascular diseases. It also reduces the risk of issues with urination.
  • A child with this syndrome has many problems. But sometimes it has positive sides. This syndrome is characterized by long-term memory. But even with this positive side, people with Williams syndrome can have attention deficits.
  • Besides, Williams syndrome can cause a large amount of potassium in the blood. It affects the child’s heart system and can cause different diseases. In older age, it can trigger diabetic neuropathy.
  • Although children with Williams syndrome learn worse than their peers and need an individual approach, they can learn the educational material. They have strong communication and verbal skills. This way, they can cover up their cognitive impairments.

 

Unfortunately, this disease has more negative symptoms than positive ones. And Williams syndrome can cause many other conditions with it. As a result, it has a heavy impact on children’s health. But with the proper treatment and psychological counseling, you can reduce all that. Thus, children can improve their quality of life and ease diseases due to this syndrome.

 

A Word From Lone Star Neurology

To know what Williams syndrome is, you need to conduct medical research. Because specialists have not identified the cause of this disease. But its symptoms can occur in anyone with a predisposition to this disease. And it manifests itself in different stages. 

So, if you have encountered such a syndrome and need to understand it in more detail, Lone Star Neurologists can help you. We provide all the information about this or that disease and can make a diagnosis. After that, you can undergo treatment and feel healthy.

 

FAQs 

At what age are you most likely diagnosed with Williams syndrome?

Doctors usually diagnose Williams syndrome in early childhood. It is about 3-4 years old. First, they observe facial features characteristic of this syndrome. After that, they prescribe an examination.

How long do children with Williams syndrome live?

Most people with Williams syndrome have an average life expectancy. But some people’s lives can be short due to severe symptoms. So, everything depends on how the syndrome develops.

Is Williams syndrome a form of autism?

Williams syndrome is not a form of autism. These are two different disorders. They only have similar behavioral and cognitive deficiencies.

Why is Williams syndrome called the Happy syndrome?

Williams syndrome results in a variety of medical features. It has developmental features, one of which is a frequent outward presentation of substantial happiness. That’s why people call it the Happy syndrome.

How common is Williams syndrome?

Williams syndrome affects an estimated 1 in 7,500 to 18,000 people. It is known to occur equally in both males and females. 

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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