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 vary, but generally include:
- mild to moderate intellectual disability;
- a distinctive facial appearance;
- and a unique personality that combines over-friendliness and high levels of empathy with anxiety.
People with Williams syndrome typically have difficulty with tasks such as drawing and assembling puzzles. They tend to do well on tasks that involve spoken language, music, and learning by repetition.
Facial features common in young children with Williams syndrome include a broad forehead; a short nose with a broad tip; full cheeks; and a wide mouth with full lips. In older children and adults, the face appears longer and more gaunt. Dental problems are common and may include small, widely spaced teeth and teeth that are crooked or missing.
People with Williams syndrome often have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias
The most significant medical problem associated with Williams syndrome is a form of heart 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, it can lead to shortness of breath, chest pain, and heart failure. The presence of other heart and blood vessel problems has also been reported.
Additional signs and symptoms of Williams syndrome may 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; and
- urinary problems.
Last updated: 9/9/2016
Is Williams syndrome inherited?
Most cases of Williams syndrome are not inherited. The condition typically occurs due to random events during the formation egg or sperm cells in a parent. Therefore, it most often occurs in people with no family history of Williams syndrome.
In a small portion of cases, people with Williams syndrome inherit the chromosome deletion from a parent with the condition.
In these cases, it is inherited in an autosomal dominant
manner. This is because having only one changed copy of chromosome 7
in each cell is enough to cause signs and symptoms.
Regardless of whether Williams syndrome occurs randomly or is inherited from a parent, each child of a person with Williams syndrome has a 50% chance of inheriting the condition.
Last updated: 3/27/2017
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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