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Williams Syndrome (in Children and Adults)

Williams Syndrome Facts in Children and Adults

Illustration of a face with graphics around it.
Williams syndrome is an inherited or genetic condition.
  • 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.

What Is 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.

What Are the Characteristics, Symptoms, and Signs of Williams Syndrome?

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.

What Causes Williams Syndrome? Is It Genetic (Inherited)?

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.

Are Williams Syndrome and Down Syndrome the Same Thing?

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.

What Tests Diagnose Williams Syndrome?

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

What Treatments Reduce Symptoms of Williams Syndrome?

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.

What Is the Life-Expectancy of Williams Syndrome? Is There a Cure?

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.

What "Famous" or Recognizable Adults Have Williams Syndrome?

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.

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Autism Spectrum Disorders Symptoms and Signs

Just as every person is unique, with his or her own personality and characteristics, every person with autism manifests the disorder in his or her unique way. The list of symptoms and behaviors associated with autism is long, and each affected person expresses his or her own combination of these behaviors. None of these clinical features is common to all people with autism, and many are occasionally exhibited by people who are not autistic.

  • Poor use of body language and nonverbal communication, such as eye contact, facial expressions, and gestures.
  • Lack of awareness of feelings of others and the expression of emotions, such as pleasure (laughing) or distress (crying), for reasons not apparent to others remaining aloof, preferring to be alone.
  • Difficulty interacting with other people and failure to make peer friendships.
  • May not want to cuddle or be cuddled.
  • Delay in, or the total lack of, the development of spoken language or speech.
  • Inability to initiate or sustain conversation.
  • Seizures
  • Aggressive or self-injurious behavior.
  • Mood and affect vary considerably, and may include being unaware of the feelings of others.
Reviewed on 11/13/2019
References
Lazier,J., Williams Syndrome Treatment and Management, Medscape. Updated: Jan 14, 2015.
<https://emedicine.medscape.com/article/893149-treatment>

What is Williams Syndrome? Williams Syndrome Association. 2019.
<https://williams-syndrome.org/what-is-williams-syndrome>

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