Williams syndromeWilliams-Beuren syndrome
Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in families (inherited).
Williams syndrome is caused by not having a copy of several genes. Parents may not have any family history of the condition. However, people with Williams syndrome have a 50% chance of passing the disorder on to each of their children. It often occurs randomly.
Williams syndrome occurs in about 1 in 8,000 births.
One of the 25 missing genes is the gene that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that missing a copy of this gene results in the narrowing of blood vessels, stretchy skin, and flexible joints seen in this condition.
Symptoms of Williams syndrome are:
- Delayed speech that may later turn into strong speaking ability and strong learning by hearing
- Developmental delay
- Easily distracted, attention deficit disorder (ADD)
- Feeding problems including colic, reflux, and vomiting
- Inward bend of the small finger
- Learning disorders
- Mild to moderate intellectual disability
- Personality traits including being very friendly, trusting strangers, fearing loud sounds or physical contact, and being interested in music
- Short, compared to the rest of the person's family
- Sunken chest
The face and mouth of someone with Williams syndrome may show:
- A flattened nasal bridge with small upturned nose
- Long ridges in the skin that run from the nose to the upper lip
- Prominent lips with an open mouth
- Skin that covers the inner corner of the eye
- Partially missing teeth, defective tooth enamel, or small, widely spaced teeth
Exams and Tests
- Narrowing of some blood vessels
- High blood calcium level that may cause seizures and rigid muscles
- High blood pressure
- Slack joints that may change to stiffness as the person gets older
- Unusual star-like pattern in iris of the eye
Tests for Williams syndrome include:
- Blood pressure check
- Blood test for a missing piece of chromosome 7 (FISH test)
- Echocardiography combined with Doppler ultrasound
- Kidney ultrasound
There is no cure for Williams syndrome. Avoid taking extra calcium and vitamin D. Treat high blood calcium, if it occurs. Blood vessel narrowing can be a major health problem. It is treated based on how severe it is.
Physical therapy is helpful to people with joint stiffness. Developmental and speech therapy can also help. For example, having strong verbal skills can help make up for other weaknesses. Other treatments are based on the person's symptoms.
It can help to have treatment coordinated by a geneticist who is experienced with Williams syndrome.
A support group can be helpful for emotional support and for giving and receiving practical advice. The following organization provides additional information about Williams Syndrome:
Williams Syndrome Association -- www.williams-syndrome.org
About 75% of people with Williams syndrome have some intellectual disability.
Most people will not live as long as normal due to the various medical issues and other possible complications.
Most people require full-time caregivers and often live in supervised group homes.
Complications may include:
- Calcium deposits in the kidney and other kidney problems
- Death (in rare cases from anesthesia)
- Heart failure due to narrowed blood vessels
- Pain in the abdomen
When to Contact a Medical Professional
Many of the symptoms and signs of Williams syndrome may not be obvious at birth. Call your health care provider if your child has features similar to those of Williams syndrome. Seek genetic counseling if you have a family history of Williams syndrome.
There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.
Morris CA. Williams syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. University of Washington, Seattle, WA. www.ncbi.nlm.nih.gov/books/NBK1249/. Updated June 13, 2013. Accessed October 24, 2015.
Low nasal bridge - illustration
A low or absent nasal bridge can occur in association with infectious diseases or genetic diseases.
Low nasal bridge
Review Date: 10/27/2015
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.