The following information may help to address your question:
What are the signs and symptoms of Williams syndrome?
The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by:
- Mild to moderate intellectual disability
- Distinctive facial appearance
- Unique personality that combines over-friendliness and high levels of empathy with anxiety.
People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization).
Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt.
Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.
The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.
Additional signs and symptoms of Williams syndrome include:
- Abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin
- Increased calcium levels in the blood (hypercalcemia) in infancy
- Developmental delays
- Problems with coordination
- Short stature
- Vision and eye problems
- Digestive problems
- Urinary problems.
Last updated: 9/9/2016
Is Williams syndrome inherited?
Most cases of Williams syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. Williams syndrome most often occurs in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant
condition because one copy of the altered chromosome 7
in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.
Regardless of family history, an individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.
Last updated: 9/9/2016
What are the signs and symptoms of familial Mediterranean fever (FMF)?
Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by pain in the abdomen, chest, joints, pelvis, and/or muscles. Episodes may also be associated with a skin rash or headache, and rarely, pericarditis
, which can lead to kidney failure
, is the most severe complication which can occur if FMF is not treated.
In some cases, amyloidosis is the first sign of the condition in a person who otherwise has no symptoms.
Episodes usually last for about one to three days, and the time between episodes can vary from days to years.
The first episode usually occurs during childhood or the teenage years. In some cases, the first episode occurs much later in life.
The majority of people with FMF experience their first episode by age 20.
People tend to be symptom-free between episodes.
Last updated: 2/1/2017
Do Williams syndrome and familial Meditteranean fever share any symptoms?
Williams syndrome and familial Mediterranean fever (FMF) are very different disorders which differ largely in regards to causes and symptoms. In reviewing the literature, it appears that the only feature that may be present in individuals with Williams syndrome or FMF would be joint-related issues. Specifically, individuals with Williams syndrome can have abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems, while individuals with familial Mediterranean fever can also have joint problems such as joint pain or tenderness during an episode.
Last updated: 6/3/2011
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