Williams Syndrome Symptoms, Causes, Treatment, and Life Expectancy

• Williams syndrome is a rare genetic disorder resulting in prenatal and postnatal development problems, growth disorders, and characteristic facial features.
• Characteristics, symptoms, and signs may include:
  • Characteristic facial features such as a wide mouth, small and upturned nose, widely spaced teeth, flat mid-face, and one or both full lips, and wide spaced and/or misaligned
  • Eyes
  • Short stature
  • Sunken chest
  • Reduced muscle tone
  • Low birth weight babies
  • Inward bending of little finger
  • Feeding problems (mainly babies and young children)
  • Learning disabilities
  • Hypersensitivity to loud sounds
  • Hearing loss
  • Delayed speech
  • Cardiac abnormalities, especially in adults
  • Emotional and behavioral problems
  • Autism, but some develop an excessively social personality
• Causes of Williams syndrome are due to deletions of portions of chromosome 7.
• The condition can be inherited, but some people develop it spontaneously.
• Williams syndrome is not the same as condition as Down syndrome because different chromosome deficiencies are responsible for each syndrome.
• Williams syndrome can be confirmed by specialized tests that detect chromosome deletions.
• Although there is no cure for Williams syndrome, there are medical and/or surgical treatments that can be utilized to reduce disease symptoms.
• The data is not clear about life expectancy for Williams syndrome because of the rarity of the disease; however, researchers estimate the disease will reduce life expectancy by about 10-20 years.
• The symptoms and signs of Williams syndrome ranges from severe disabilities to mild symptoms.
• Each person with Williams syndrome is uniquely different
• There are some recognizable (or what some people would call “famous" with Williams syndrome.

Williams syndrome (also termed Williams-Beuren syndrome) is a rare genetic disorder (in chromosome 7) that results in prenatal and postnatal growth disorder, short stature, variable degrees of mental deficiency and distinctive facial features.

Characteristics, symptoms, and signs of Williams syndrome may include some or many of these:

1. Characteristics of facial features such as a wide mouth, small and upturned nose, widely spaced teeth, flat mid-face, and one or both full lips, wide spaced and/or misaligned
2. eyes with a starry pattern in the iris
3. Short stature
4. Sunken chest
5. Reduced muscle tone
6. Low birth weight babies
7. Inward bending of little finger
8. Feeding problems (mainly babies and young children)
9. Learning disabilities
10. Autism, but some have an excessively social personality
11. Hypersensitivity to loud sounds
12. Hearing loss
13. Delayed speech
14. Cardiac abnormalities, especially in adults
15. Emotional and behavioral problems

These characteristics, signs, and symptoms, depending on their severity, may result in mild to severe Williams syndrome.

Causes of Williams syndrome can be inherited or spontaneous; they are due to deletions in chromosome 7 that occur during formation of egg and sperm. The causes are different for Down syndrome; so, Williams syndrome is not the same as Down syndrome.

No, Williams syndrome and Down syndrome are not the same type of genetic condition. Williams syndrome is due to portions of chromosome 7 being deleted while Down syndrome is caused by extra genetic material from chromosome 21 and is transferred to a newly formed embryo. However, they both Williams syndrome and Down syndrome share common characteristics, signs, and symptoms.

Williams syndrome can be confirmed by specialized tests that detect chromosome deletions.

Treatment is available to reduce symptoms. Treatments are designed for each different individual; usually a doctor team approach to the him or her helps to treat the various problems like failure to thrive, hypercalcemia (high blood calcium), autism and/or cardiac problems that may need surgery.

The average loss of lifespan or life expectancy is estimated to be about 10-20 years, but there is a lack of data to confirm this. Moreover, each person is different so their lifespan may be different from the current estimates.

Several famous (or recognizable) people have been diagnosed with Williams syndrome, which include:

• Amy Kotch, featured in KLRU-TV's public media.
• Gloria Lenhoff, a soprano singer who has performed with Aerosmith, and the San Diego Master Chorale.
• Ben (Big Red) Monkaba, a member of the Black Cat community theater.
• Leah Ward, who befriended a basketball coach (LeVelle Moton) who has encouraged her to give pregame speeches.