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Disease Profile
Williams syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
Q93.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Williams-Beuren syndrome; WBS; WMS;
Categories
Blood Diseases; Congenital and Genetic Diseases; Eye diseases;
Summary
Williams
Symptoms
- 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.[1]
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.[1]
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 are common.[1]
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.[1]
Additional signs and symptoms of Williams syndrome may include:[1]
- abnormalities of connective
tissue (tissue that supports the body's joints andorgans ) 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.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Abnormality of extrapyramidal motor function | 0002071 | |
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
Abnormality of the neck | 0000464 | |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Broad forehead |
Increased width of the forehead
Wide forehead
[ more ] |
0000337 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Depressivity |
Depression
|
0000716 |
Dysgraphia | 0010526 | |
Dysmetria |
Lack of coordination of movement
|
0001310 |
Elfin facies |
Elf-like facial appearance
Elf-like facial features
[ more ] |
0004428 |
Epicanthus |
Prominent eye folds
Eye folds
[ more ] |
0000286 |
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 |
Failure to thrive in infancy |
Faltering weight in infancy
Weight faltering in infancy
[ more ] |
0001531 |
Gait imbalance |
Imbalanced walk
Abnormality of equilibrium
Abnormality of balance
[ more ] |
0002141 |
High forehead | 0000348 | |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ] |
0008499 |
Hoarse voice |
Husky voice
Hoarseness
[ more ] |
0001609 |
Hyperacusis | 0010780 | |
Hypercalcemia |
High blood calcium levels
Increased calcium in blood
[ more ] |
0003072 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Intellectual disability |
Mental deficiency
Mental retardation, nonspecific
Mental retardation
Mental-retardation
[ more ] |
0001249 |
Long philtrum | 0000343 | |
Low-set, posteriorly rotated ears | 0000368 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Macrotia |
Large ears
|
0000400 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Overfriendliness | 0100025 | |
Periorbital edema | 0100539 | |
Phonophobia |
Fear of loud sounds
|
0002183 |
Pointed chin |
Pointy chin
Small pointed chin
Witch's chin
[ more ] |
0000307 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Short stature |
Small stature
Decreased body height
[ more ] |
0004322 |
Thick lower lip vermilion |
Plump lower lip
Increased volume of lower lip
Prominent lower lip
[ more ] |
0000179 |
Tremor | 0001337 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Arthralgia |
Joint pain
|
0002829 |
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
0000717 | ||
Bladder diverticulum | 0000015 | |
Blue irides |
Blue eyes
|
0000635 |
Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of
Cause Williams
CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that the loss of the ELN gene is associated with the connective Diagnosis The diagnosis of Williams
Because the symptoms and severity of WS vary, no single feature is needed to establish the diagnosis.[4] WS may first be suspected in individuals with:
Testing Resources
Treatment Treatment for people with Williams
Management Guidelines
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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