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Williams syndrome – Pictures, Life Expectancy, Symptoms, Treatment

Updated on September 12, 2013

Williams syndrome is a very rare and uncommon genetic disorder that is identified in affected patients in the form of the following characteristics -

  • Cognizable distinctive and unique facial features
  • Inimitable personality with mild or moderate imbalance
  • Presence of learning problems
  • Presence of speech delay disorders
  • Being over-friendly, gullible and having fear of loud noise or physical contact.

Williams syndrome is usually not considered as an inherited disorder. The health abnormality is caused by random alteration of genes that result in deletion of a small portion of chromosome 7. It may however be noted that parents affected by Williams syndrome carry a fifty percent risk of passing on the genetic defect to their child. The syndrome is diagnosed and confirmed by a blood test which indicates the absence of a part of chromosome 7.

Occurrence of narrowed arteries that result in cardiovascular problems is a major medical complication of Williams syndrome. During infancy, excess calcium is also found in the blood composition of patients.

This syndrome is rare and complex; and there is no known cure or a specific treatment method for Williams syndrome. As per the number and severity of defects present, the patients will need to consult a variety of specialists so as to correct those anomalies via medications and other medical therapies.

Symptoms of Williams syndrome

The following are some of the signs and symptoms of Williams syndrome:

  • The little finger may be seen bent a little inwards.
  • Delay in speech may occur. But it may become better in future as the affected child grows older, due to improved learning by hearing.
  • Persons affected by Williams syndrome generally possess low levels of concentration and are prone to easy distraction. They may have attention deficit disorder or similar defects.
  • Children with Williams syndrome may experience colic, vomiting, reflex problems, and other feeding difficulties.
  • These kids may have mild or moderate mental retardation. They may have learning difficulties.
  • Children with Williams syndrome may have sunken chest and appear shorter in stature in comparison to other family members.
  • The anomalous facial features are unique and easily identified. The face may elicit:
    • A flattened and upturned nose
    • An open mouth and striking lips
    • Skin folds at the inside corner of the eye
    • Defects in tooth enamel, including small sized teeth and wide gaps between the teeth. They may also have lesser number of teeth.
    • They may show long ridges running from their nose up to the end of their upper lip.
    • Persons affected by Williams syndrome generally possess a distinctive personality such as:
      • Increased interest and skill in music and art
      • Increased fondness of friendship and cordiality
      • Fear for loud sounds
      • Feel uncomfortable with physical contact
      • Very easy trusting of strangers

Williams syndrome may cause a number of complications, some of which are listed below:

  • Increased constriction of the arteries may cause cardiac arrest
  • Extreme pain in the abdomen
  • In very rare cases, death may be caused by anesthesia in persons with Williams syndrome
  • May cause kidney problems due to excess collection of calcium in the kidneys.

At the time of birth, the infant may not show any symptoms of Williams syndrome. However, a doctor needs to be consulted as soon as the symptoms are evident. In case any of the family members are affected by the condition, then you should go for genetic counseling before trying to become a parent.

Causes of Williams syndrome

Williams syndrome is a rare disorder caused due to deleted or missing genes. Such genetic defects can occur at random. The infant may develop this syndrome even if both the parents do not have this defect. However, a child has a 50% risk of getting affected by the condition if any one of the parents suffers from Williams syndrome.

The genes produce a protein called elastin that helps all blood vessels to getthe strength for stretching and extension. If only a single copy of that gene is present,then it results in development of Williams syndromethat is characterized by narrowed arteries. The rate of incidence for Williams syndrome is estimated to be 1 in 8000 births.

Treatment

The treatment for Williams syndrome is aimed at correcting and removing the symptoms. Currently, there is no known cure for this congenital syndrome.

  • The intake of vitamin D and calcium should be avoided. The level of medication for excess calcium depends on the level of calcium present in blood.
  • Joint stiffness can get relief through physical therapy.
  • The patients who suffer from speech and language delays need speech therapy
  • The choice of treatment for compressed blood vessels is dependent on its severity levels. Surgery may be opted if the prescribed medications do not yield an effective and corrective response
  • There are no known ways for preventing Williams syndrome. Parents with this syndrome should have genetic counseling and prenatal testing before going for a child.

Life Expectancy in Williams Syndrome Patients

People with WS can live beyond 60 years of age with proper care. However graying of hair begins to onset in the 20s and as a person ages, there is reduced mobility; the legs and hips become weak.

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