Video produced and shared by Williams Syndrome Association
Williams Syndrome
Williams syndrome (WS) is a rare disease caused by the spontaneous deletion of 26-28 genes on chromosome #7 at the time of conception.
It affects 1 in 10,000 people worldwide - an estimated 20,000 to 30,000 people in the United States. It is known to occur in both males and females and in every culture. (williams-syndrome.org)
Children with Williams syndrome are often very social, friendly and endearing. Parents often say the joy and perspective a child with WS brings into their lives had been unimaginable. But there are major struggles as well.
Many babies have life-threatening cardiovascular problems. Children with WS need costly and ongoing medical care and early interventions (such as speech or occupational therapy) that may not be covered by insurance or state funding. As they grow, they struggle with things like spatial relations, numbers, and abstract reasoning, which can make daily tasks a challenge.
Struggles living a full and independent life
As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential. Many adults with WS contribute to their communities as volunteers or paid employees; often working at assisted living homes for senior citizens, hospitals and libraries, or as store greeters or veterinary aides.
Common Features
Characteristic facial appearance
Heart and blood vessel problems
Hypercalcemia (elevated blood calcium levels)
Low birth-weight/slow weight gain
Feeding difficulty
Irritability - colic during infancy
Dental abnormalities
Feeding difficulty
Hyperacusis (sensitive hearing)
Musculoskeletal problems
Overly friendly personality - excessively social
Developmental delay, learning challenges and attention deficit disorder
Irritability - Colic during infancy
Dental abnormalities
Kidney abnormalities
Hernias
Ocular motor apraxia (OMA)
OMA is a neurological disorder that causes problems with voluntary horizontal eye movement. Children with this condition have difficulty moving their eyes in the desired direction. The source of this disorder stems from issues in the central nervous system and abnormal saccades (the quick, simultaneous movement of both eyes in the same direction). Children with OMA often have developmental delays (speech, reading, motor) and low muscle tone (hypotonia).
Arthrogryposis
Arthrogryposis, or arthrogryposis multiplex congenita (AMC), is a term used to describe a variety of rare nonprogressive conditions characterized by joint contractures found throughout the body. About 1 out of every 3,000 babies are born with arthrogryposis. Symptoms include limited range of motion of joints (typically in the wrist, hand, elbow, shoulder, hips, knees, and ankles), muscle weakness throughout the body, and the possibility of developing scoliosis.
Christine Fugate, filmmaker, is diagnosed with EDS.
Autism
Autism spectrum disorder (ASD) refers to a broad range of conditions characterized by challenges with social skills, repetitive behaviors, speech, and nonverbal communication. Autism is a spectrum disorder with many subtypes that are influenced by genetic and environmental factors and each person has a distinct set of strengths and challenges.
Ehlers-Danlos Syndrome (EDS)
EDS is a group of inherited disorders that affect connective tissues, primarily your skin, joints, and blood vessel walls. It is estimated that EDS can occur in between 1 in 5,000 - 250,000 births. People with EDS tend to have overly flexible joints and stretchy, fragile skin which can result in joint dislocations and early-onset arthritis.