Williams syndrome is a rare, congenital, and complex genetic disorder marked by physical and developmental abnormalities, the most evident of which is the presence of narrowed arteries which in turn trigger the onset of cardiovascular diseases. Affected infants may also suffer from very high blood calcium levels.
The outward symptoms of Williams syndrome that are easily noticeable include problems in learning, unique facial features, minor or moderate levels of mental retardation, as well as a distinctive affable personality characterized by anxiety, increased intimacy, and excessive compassion.
In most cases, Williams syndrome does not get passed on from the parents. The associated genetic mutation, marked by deletion of a small section of chromosome 7, generally occurs at random. However, if any of the parents are also patients of Williams syndrome, then the risk of their child being born with Williams syndrome is upped by nearly 50 percent. Williams syndrome affects 1 child out of every 20,000 live births.
There is no known cure for Williams syndrome and there are no standard methods to treat and manage the adverse symptoms and the associated complications. Specialists from many different fields have to be consulted for diagnosis and treatment of Williams syndrome.
Symptoms of Williams syndrome
The signs and symptoms of Williams syndrome are varied and often differ from one patient to another. A few common symptoms are listed below.
- Facial features: The overall shape and size of the face is irregular. It may elicit the following unusual features:
- Occurrence of elongated ridges or creases that start near the nose and end near the upper lip.
- An open mouth along with very prominent lips.
- The nose may face upwards. The nasal bridge may have a flat appearance.
- The corner towards the inside sections of the eyes may be enclosed in skin folds.
- Defects of the tooth enamel may be observed. The teeth are spaced widely and tend to smaller than usual. Patients may also be missing some teeth.
- Developmental, physical, and mental anomalies: They include:
- Varied developmental delays may be evident, including delays in reaching developmental milestones such as walking, crawling, etc.
- As an adult, the height of the patient may be shorter than the average height of other family members.
- Presence of learning disabilities and delayed development of speech. Over time, patients may develop good speaking abilities as well as better learning via audio/hearing.
- Children with Williams syndrome can get distracted very easily. They exhibit reduced capacity to concentrate as well as attention problems such as ADHD and/or ADD as adults.
- Unique personality traits such as increased curiosity in music, easy trust in strangers, fear of loud sounds and physical contact, and excessive friendliness may be noticeable.
- Vomiting, reflux, colic, and other feeding problems may be evident.
- Mild to moderate mental retardation.
- Pectus excavatum, i.e., the chest may bend inwards or appear sunken.
- The small finger may curve inwards.
A lot of the signs and symptoms associated with Williams syndrome may not be that obvious after birth. When parents notice any of the above listed symptoms, then immediately consult a doctor for diagnosis. Couples with a family history of Williams syndrome need to consult a geneticist before planning to conceive a child.
Some common health complications associated with Williams syndrome are listed below:
- Severe and extreme pain in the abdomen.
- Increased narrowing of the arteries, especially the cardiac arteries, can result in heart failure.
- Elevated levels of calcium in the blood get passed into the kidneys resulting in buildup of calcium in the kidneys. This can cause a variety of kidney problems.
- In rare instances, anesthesia can result in the death of a person with Williams syndrome.
Causes of Williams syndrome
Williams syndrome is caused due to missing or absent genes. Studies have indicated that erasure of a tiny section of chromosome 7 is what causes the genetic disorder. Such genetic error is rare and occurs unsystematically without any known cause. A child may be born with Williams syndrome even if either of the parents do not have it. However, if any one of the parents are affected by the disorder, then there is a 50 percent chance of the genetic defect being passed onto the unborn child.
The deleted section of chromosome 7 is home to 25 genes. Out of these 25 genes, one is responsible for production and regulation of a protein called elastin. The protein sends signals to different tissues and blood vessels in the body to stretch and extend. Absence of the associated gene, or the occurrence of just one copy of the gene, causes dysfunction of elastin protein leading to the distinctive health problems of constricted arteries in people with Williams syndrome.
Treatment
Doctors are currently unaware about any treatment option for correcting genetic mutation. Hence, Williams syndrome has no known cure. Treatment of the condition is focused on easing and managing the symptoms as well as preventing the onset of health complications.
- Treatment of constricted arteries and blood vessels is dependent on the severity of the contraction. Doctors may prescribe different medications to reduce the narrowing. If the issue persists, then surgery is recommended.
- Language and speech delays can be corrected via speech therapy.
- Elevated levels of calcium in the blood is treated on an individual basis. People with Williams syndrome are also advised to avoid or limit the intake of calcium and vitamin D supplements.
- Joint stiffness and other physical problems can be overcome with physical therapy.
Williams syndrome life expectancy
Life expectancy of Williams syndrome patients is reduced as compared to healthy people, especially if associated health complications develop. Over 76 percent of patients tend to elicit some form of mental disorder, including retardation. Hence, they require constant care and support for the rest of their lives so as to prolong it.
Couples with a family history of Williams syndrome need to go for genetic counseling before having a child. Couples without any family history of the disorder can verify the presence of the condition via prenatal testing and prepare accordingly. With proper care, a person with Williams Syndrome can live beyond 60s years of age.