What are the symptoms of Williams syndrome?
Symptoms of Williams syndrome include: Chronic ear infections and/or hearing loss.
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Physical characteristics of Williams syndrome
- Full cheeks.
- Large ears.
- Prominent lips.
- Short stature.
- Small jaw.
- Upturned nose.
- Vertical skin folds that cover the inner corner of the eyes (epicanthal folds).
- Wide mouth.
Which exam findings are most suggestive of Williams syndrome?
Suggestive Findings
- Cardiovascular disease (elastin arteriopathy). Any artery may be narrowed.
- Distinctive facies.
- Connective tissue abnormalities.
- Intellectual disability.
- Specific cognitive profile.
- Unique personality.
- Growth abnormalities.
- Endocrine abnormalities.
How does Williams syndrome affect the heart?
Congenital heart defects (CHD) occur in approximately 75 percent of children with Williams syndrome. The most frequent defect is supravalvar aortic stenosis, a condition characterized by the narrowing of the aorta above the aortic valve. The aorta is the main artery of the vascular system.
What is the cause of Williams syndrome?
Causes. Williams syndrome is caused by the loss (deletion ) of genetic material from a specific region of chromosome 7. The deleted region includes 25 to 27 genes, and researchers believe that a loss of several of these genes contributes to the characteristic features of this disorder.
What is Pixie syndrome?
It is associated with developmental delays and medical problems affecting multiple parts of the body. Features of Williams syndrome include: Characteristic facial features that have been described as pixie-like. Fullness to the skin around the eyes. A starburst pattern in the colored part of the eye.
Why is it called Kabuki syndrome?
The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater. People with Kabuki syndrome have mild to severe developmental delay and intellectual disability.
Why is Williams syndrome called the Happy syndrome?
Williams syndrome is a genetic disorder resulting in a variety of medical and developmental features, one of which is a frequent outward presentation of substantial happiness.
How do you get tested for Williams syndrome?
A through investigation of the child’s blood vessels, often with an echocardiogram (similar to the ultrasound used to look at a baby during pregnancy) and an EKG. A DNA test to check for the missing genes because Williams syndrome is caused by 26-28 missing genes in a small region on one of the child’s chromosomes.
What famous people 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.
What is Jacobsen syndrome?
Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder. The signs and symptoms of Jacobsen syndrome vary considerably.
What is Mowat Wilson syndrome?
Description. Collapse Section. Mowat-Wilson syndrome is a genetic condition that affects many parts of the body. Major signs of this disorder frequently include distinctive facial features, intellectual disability, delayed development, an intestinal disorder called Hirschsprung disease, and other birth defects.
What is Freeman Sheldon Syndrome?
Freeman-Sheldon syndrome (also known as Freeman-Burian syndrome) is a condition that primarily affects muscles in the face and skull (craniofacial muscles) and can often affect joints in the hands and feet.
Can you have Williams syndrome without knowing?
Williams syndrome may be undiagnosed, which means that many people with the disorder fail to get the support and treatment they need until later in life.
Is Williams syndrome like Down’s syndrome?
Williams syndrome and Down syndrome are both chromosomal disorders affecting people from birth. However, Williams syndrome is caused by a missing chromosome, while Down syndrome is caused by an extra chromosome.
What is Pallister Killian syndrome?
Pallister-Killian mosaic syndrome is a multi-system disorder that is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, distinctive facial features, sparse hair, areas of unusual skin coloring (pigmentation), and other birth defects.
What is Carpenter’s syndrome?
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems. Craniosynostosis prevents the skull from growing normally, frequently giving the head a pointed appearance (acrocephaly).
Why are people with Williams syndrome so happy?
And they found that people with Williams syndrome have a lot more oxytocin than everybody else, and that it fluctuates wildly in the brain. As a result, they feel this biological impulse to love all the time.
What’s the opposite of autism?
In some ways Williams syndrome is the opposite of autism. For example, people with Williams syndrome love to talk and tell stories, whereas those with autism usually have language delay and little imagination. Many people with Williams syndrome draw disjointed pictures, some with autism draw pictures in perfect detail.
Is Williams syndrome a form of autism?
Williams Syndrome (WS) is not an autism spectrum disorder (ASD), although there is some overlap between the two conditions. WS and ASD have opposite characteristics in the social domain, but share some common behavioral and cognitive deficiencies.
What is Moon syndrome?
Summary. Laurence-Moon syndrome (LNMS) is a genetic condition that results in a complex association of problems that affect several different body parts. People with LNMS may have difficulties with functions of the brain, eyes, ears, stomach, kidneys, hands and feet.
What is Aspergers called now?
The name for Asperger’s Syndrome has officially changed, but many still use the term Asperger’s Syndrome when talking about their condition. The symptoms of Asperger’s Syndrome are now included in a condition called Autism Spectrum Disorder (ASD). ASD is now the name used for a wide range of autism-like disorders.
What is a high functioning autistic?
“High-functioning autism” isn’t an official medical term or diagnosis. It’s an informal one some people use when they talk about people with an autism spectrum disorder who can speak, read, write, and handle basic life skills like eating and getting dressed. They can live independently.
What are the 3 main symptoms of Aspergers?
What are the Symptoms of Asperger’s Syndrome?
- Inappropriate or minimal social interactions.
- Conversations that almost always revolve around themselves or a certain topic, rather than others.
- Not understanding emotions well or having less facial expression than others.
What is the extreme opposite of autism?
What is Johanson Blizzard syndrome?
Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.