Williams syndrome

Información en español Title

Other Names:

Williams-Beuren syndrome; WBS; WMS; Williams-Beuren syndrome; WBS; WMS; Deletion 7q11.23; Monosomy 7q11.23 See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Blood Diseases; Congenital and Genetic Diseases; Eye diseases; Heart Diseases; Kidney and Urinary Diseases; Nervous System Diseases See More

Summary Summary

Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive facial features; and heart and blood vessel problems.^[1] Williams syndrome is caused by a person missing more than 25 genes from a specific area of chromosome 7 (a "deletion").^[1]^[2] The loss of these genes contributes to the characteristic features.^[1] Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. Treatments are based on each person's signs and symptoms, as there is no cure at this time.^[1]^[3]

Last updated: 9/21/2018

Symptoms Symptoms

The signs and symptoms of Williams syndrome can vary, but generally include:^[1]^[3]

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 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

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.

Showing of 218 |

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 pelvic girdle bone morphology	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	Abnormality of equilibrium Abnormality of balance Imbalanced walk [ more ]	0002141
High forehead		0000348
High hypermetropia	Severe farsightedness Severe long-sightedness [ more ]	0008499
Hoarse voice	Hoarseness Husky voice [ more ]	0001609
Hyperacusis		0010780
Hypercalcemia	Increased calcium in blood High blood calcium levels [ 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
Micrognathia	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
Autism		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 tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Cerebral ischemia	Disruption of blood oxygen supply to brain	0002637
Chronic otitis media	Chronic infections of the middle ear	0000389
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Colonic diverticula		0002253
Constipation		0002019
Coronary artery stenosis	Narrowing of coronary artery	0005145
Cutis laxa	Loose and inelastic skin	0000973
Dental malocclusion	Bad bite Malalignment of upper and lower dental arches Misalignment of upper and lower dental arches [ more ]	0000689
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Down-sloping shoulders	Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ]	0200021
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Feeding difficulties in infancy		0008872
Flexion contracture	Flexed joint that cannot be straightened	0001371
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Genu valgum	Knock knees	0002857
Hallux valgus	Bunion	0001822
Hypercalciuria	Elevated urine calcium levels	0002150
Hyperlordosis	Prominent swayback	0003307
Hypodontia	Failure of development of between one and six teeth	0000668
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Hypoplastic toenails	Underdeveloped toenails	0001800
Impaired visuospatial constructive cognition		0010794
Incoordination	Difficulties in coordination Incoordination of limb movements Limb incoordination [ more ]	0002311
Inguinal hernia		0000023
Insomnia	Difficulty staying or falling asleep	0100785
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Joint stiffness	Stiff joint Stiff joints [ more ]	0001387
Kyphoscoliosis		0002751
Kyphosis	Hunched back Round back [ more ]	0002808
Large earlobe	Fleshy earlobe Fleshy earlobes Prominent ear lobes prominent ear lobules [ more ]	0009748
Medial flaring of the eyebrow		0010747
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microdontia	Decreased width of tooth	0000691
Mitral regurgitation		0001653
Mitral valve prolapse		0001634
Muscular hypotonia	Low or weak muscle tone	0001252
Narrow forehead	Decreased width of the forehead	0000341
Nausea and vomiting		0002017
Nystagmus-induced head nodding		0001361
Obesity	Having too much body fat	0001513
Obsessive-compulsive behavior	Obsessive compulsive behavior	0000722
Open mouth	Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ]	0000194
Osteopenia		0000938
Osteoporosis		0000939
Pelvic kidney		0000125
Periorbital fullness	Puffiness around eye	0000629
Peripheral pulmonary artery stenosis	Narrowing of peripheral lung artery	0004969
Pes planus	Flat feet Flat foot [ more ]	0001763
Premature graying of hair	Early graying Premature graying Premature greying Premature hair graying [ more ]	0002216
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Pulmonic stenosis	Narrowing of pulmonic valve	0001642
Rectal prolapse	Rectum protrudes through anus	0002035
Recurrent otitis media	Recurrent middle ear infection	0000403
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Urinary tract infections, recurrent Repeated urinary tract infections Urinary tract infections [ more ]	0000010
Redundant skin	Loose redundant skin Redundant skin folds Sagging, redundant skin [ more ]	0001582
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Renovascular hypertension		0100817
Sacral dimple	Spinal dimple	0000960
Sensorineural hearing impairment		0000407
Small nail	Small nails	0001792
Soft skin		0000977
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Stroke		0001297
Supravalvular aortic stenosis		0004381
Urethral stenosis	Narrowing of the urethra	0008661
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
5%-29% of people have these symptoms
Abnormal carotid artery morphology		0005344
Abnormal circulating lipid concentration		0003119
Abnormal dermatoglyphics	Abnormal fingerprints	0007477
Abnormal endocardium morphology		0004306
Abnormal form of the vertebral bodies		0003312
Abnormal tubulointerstitial morphology		0001969
Abnormality of refraction		0000539
Abnormality of the ankles		0003028
Abnormality of the diencephalon		0010662
Abnormality of the gastric mucosa	Abnormality of the mucous membrane layer of stomach	0004295
Adducted thumb	Inward turned thumb	0001181
Amblyopia	Lazy eye Wandering eye [ more ]	0000646
Aortic arch aneurysm		0005113
Aplasia/Hypoplasia of the iris	Absent/small iris Absent/underdeveloped iris [ more ]	0008053
Arnold-Chiari malformation		0002308
Atrial septal defect	Hole in heart wall separating two upper heart chambers An opening in the wall separating the top two chambers of the heart [ more ]	0001631
Atrophy/Degeneration involving the corticospinal tracts		0007372
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Celiac disease		0002608
Cerebral cortical atrophy	Decrease in size of the outer layer of the brain due to loss of brain cells	0002120
Cholelithiasis	Gallstones	0001081
Congestive heart failure	Cardiac failure Cardiac failures Heart failure [ more ]	0001635
Corneal opacity		0007957
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Death in early adulthood		0100613
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Dysarthria	Difficulty articulating speech	0001260
Dysphonia	Inability to produce voice sounds	0001618
Flat cornea		0007720
Functional abnormality of male internal genitalia		0000025
Gingival overgrowth	Gum enlargement	0000212
Glaucoma		0000501
Hypertrophic cardiomyopathy	Enlarged and thickened heart muscle	0001639
Hypogonadotropic hypogonadism		0000044
Hypoplasia of penis	Underdeveloped penis	0008736
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Hypothyroidism	Underactive thyroid	0000821
Increased bone mineral density	Increased bone density	0011001
Increased nuchal translucency		0010880
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Lacrimation abnormality	Abnormality of tear production	0000632
Malabsorption	Intestinal malabsorption	0002024
Malar flattening	Zygomatic flattening	0000272
Megalocornea	Enlarged cornea	0000485
Micropenis	Short penis Small penis [ more ]	0000054
Multiple renal cysts	Multiple kidney cysts	0005562
Myocardial infarction	Heart attack	0001658
Myopathy	Muscle tissue disease	0003198
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Nephrocalcinosis	Too much calcium deposited in kidneys	0000121
Nephrolithiasis	Kidney stones	0000787
Nevus flammeus	port-wine stain	0001052
Overriding aorta		0002623
Patellar dislocation	Dislocated kneecap	0002999
Patent ductus arteriosus		0001643
Pectus excavatum	Funnel chest	0000767
Peptic ulcer	Sore in the lining of gastrointestinal tract	0004398
Polycystic ovaries		0000147
Portal hypertension		0001409
Posterior embryotoxon		0000627
Precocious puberty	Early onset of puberty Early puberty [ more ]	0000826
Prematurely aged appearance	Precociously senile appearance	0007495
Radioulnar synostosis	Fused forearm bones	0002974
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Renal artery stenosis	Narrowing of kidney artery	0001920
Renal duplication	Extra kidney	0000075
Renal hypoplasia	Small kidneys Underdeveloped kidneys [ more ]	0000089
Retinal arteriolar tortuosity		0001136
Scoliosis		0002650
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Spina bifida occulta		0003298
Sudden cardiac death	Premature sudden cardiac death	0001645
Tetralogy of Fallot		0001636
Tracheoesophageal fistula		0002575
Type II diabetes mellitus	Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ]	0005978
Umbilical hernia		0001537
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Vertebral segmentation defect		0003422
Vesicoureteral reflux		0000076
Vocal cord paralysis	Inability to move vocal cords	0001605
1%-4% of people have these symptoms
Arnold-Chiari type I malformation		0007099
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Diabetes mellitus		0000819
Early onset of sexual maturation		0100000
Hypertension		0000822
Myxomatous mitral valve degeneration		0004764
Sudden death		0001699
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Chronic constipation	Infrequent bowel movements	0012450
Enuresis		0000805
Food intolerance		0012537
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Glucose intolerance		0001952
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Obsessive-compulsive trait	Obsessive-compulsive traits	0008770
Poor coordination		0002370

Showing of 218 |

Last updated: 7/1/2020

Cause Cause

Williams syndrome is caused by a missing piece (deletion) of genetic material from a specific region of chromosome 7. The deleted region includes more than 25 genes.^[1]

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 tissue abnormalities and heart disease in many people with this condition. Studies suggest that deletions of CLIP2, GTF2I, GTF2IRD1, LIMK1, and perhaps other genes, may help explain many of the unique behavioral characteristics and cognitive difficulties. Loss of the GTF2IRD1 gene may also contribute to the distinctive facial features often present.^[1] The relationship between some of the other deleted genes and the features of Williams syndrome is not yet known.^[1]

Last updated: 9/9/2016

Inheritance Inheritance

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.^[1] 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.^[4]

Last updated: 3/27/2017

Diagnosis Diagnosis

The diagnosis of Williams syndrome (WS) is established by genetic testing identifying a specific microdeletion at chromosome 7q11.23 (on the long arm of chromosome 7, at a position designated 11.23).^[4]

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:

Cardiovascular (heart) disease (elastin arteriopathy) - any artery may be narrowed. Supravalvar aortic stenosis (SVAS) is the most common heart abnormality, occurring in 75% of people with WS. Peripheral pulmonic stenosis is common in infancy.^[4]
Distinctive facial features - 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.^[1]
Connective tissue abnormalities causing a hoarse voice, inguinal or umbilical hernia, bowel or bladder diverticulum, rectal prolapse, joint limitation or laxity, and soft, lax skin.^[4]
Intellectual disability - some degree is present in most people with WS. Some have average intelligence.^[4]
Strengths in verbal short-term memory and language, and extreme weakness in visuospatial construction.^[4]
Unique personality - overfriendliness, empathy, generalized anxiety, specific phobias, and attention deficit disorder are commonly present.^[4]
Growth abnormalities - prenatal growth deficiency, failure to thrive in infancy, poor weight gain and growth in the first four years, and a brief pubertal growth spurt.^[4]
Endocrine abnormalities such as hypercalcemia, high calcium urine levels (hypercalciuria), hypothyroidism, and early puberty.^[4]

Last updated: 8/16/2017

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Treatment for people with Williams syndrome may be individualized depending on the symptoms and severity in each person. Management may include:

Feeding therapy for infants with feeding problems
Early intervention programs and special education programs for children with varying degrees of developmental disabilities
Behavioral counseling and/or medications for attention deficit disorder and/or anxiety
Surgery for certain heart abnormalities
Medications or diet modifications for hypercalcemia
Orthodontic appliances or other treatments for malocclusion of teeth
Gonadotropin-releasing hormone agonist for early puberty^[4]

Last updated: 8/16/2017

Management Guidelines

Management guidelines from the American Academy of Pediatrics: Health Care Supervision for Children With Williams Syndrome
Pediatrics, Vol. 107 No. 5 May 2001, pp. 1192-1204.
A statement of reaffirmation for this policy was published on September 1, 2005

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Williams syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support 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

Canadian Association for Williams Syndrome
PO Box 2115
Vancouver, BC, V6B 3T5 Canada
Telephone: 604-853-0231
Fax: 604-853-0232
Website: http://caws.sasktelwebhosting.com/
Williams Syndrome Association
570 Kirts Blvd
Suite 223
Troy, MI 48084-4156
Toll-free: 800-806-1871
Telephone: 248-244-2229
Fax: 248-244-2230
E-mail: info@williams-syndrome.org
Website: http://www.williams-syndrome.org
Williams Syndrome Foundation
Suite 103
145-147 Boston Road, Ealing
London W7 3SA, England
Telephone: 01732-365152
E-mail: enquiries@williams-syndrome.org.uk
Website: http://www.williams-syndrome.org.uk/

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Learn More Learn More

These 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

Genetics Home Reference (GHR) contains information on Williams syndrome. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Williams syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Our daughter has Williams syndrome and is in her 30's. She has an aggressive intraductal papilloma and her doctor wondered if this could be related to Williams syndrome. As our daughter ages, we know we should have her heart and kidneys monitored, but are there other medical issues which are linked to aging with Williams syndrome? See answer
My sister has Williams syndrome and I am concerned about my chances to have a child with this condition. Is Williams syndrome inherited? Are there any ways to prevent Williams syndrome? See answer

References References

Williams syndrome. Genetics Home Reference (GHR). December 2014; http://ghr.nlm.nih.gov/condition/williams-syndrome.
Williams syndrome. MedlinePlus. 2017; http://www.nlm.nih.gov/medlineplus/ency/article/001116.htm.
Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (NINDS). May 22, 2017; https://www.ninds.nih.gov/Disorders/All-Disorders/Williams-Syndrome-Information-Page.
Morris CA. Williams Syndrome. GeneReviews. March 23, 2017; http://www.ncbi.nlm.nih.gov/books/NBK1249/.

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