How is williams syndrome treated

One woman went years misdiagnosed until she was finally diagnosed with chronic fatigue…. New research suggests a common biomarker for inflammation is present for years in people with chronic fatigue syndrome.

Caudal regression syndrome, or sacral agenesis, is a rare condition where the lower spine doesn't fully form before birth. Here's what you should know. Mermaid syndrome is a severe and often fatal congenital abnormality involving fused limbs, which have been described as resembling a mermaid's tail.

According to an observational study in , couples, there was a 35 percent increase in the chance of birth defects in newborns if the father…. Krabbe disease is a rare and life threatening disorder of the nervous system. Sturge-Weber syndrome is a rare neurological disorder present at birth. Learn about its symptoms, causes, diagnosis, and treatment. Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Learn about the symptoms, causes, and treatment.

Health Conditions Discover Plan Connect. Williams Syndrome. Medically reviewed by Alana Biggers, M. What are the symptoms of Williams syndrome? How is Williams syndrome diagnosed? Treatment options for Williams syndrome. Long-term complications of Williams syndrome. Can Williams syndrome be prevented?

Read this next. Medically reviewed by Karen Gill, M. What Is Caudal Regression Syndrome? Decreased width of tooth. Low or weak muscle tone. Decreased width of the forehead. Having too much body fat. Obsessive compulsive behavior. Gaped jawed appearance. Gaped mouthed appearance. Slack jawed appearance. Puffiness around eye. Narrowing of peripheral lung artery.

Flat feet. Flat foot. Early graying. Premature graying. Premature greying. Premature hair graying. High urine protein levels. Protein in urine. Narrowing of pulmonic valve. Rectum protrudes through anus.

Recurrent middle ear infection. Frequent urinary tract infections. Repeated bladder infections. Repeated urinary tract infections. Urinary tract infections. Urinary tract infections, recurrent. Loose redundant skin. Redundant skin folds. Sagging, redundant skin.

Renal failure. Renal failure in adulthood. Spinal dimple. Small nails. Involuntary muscle stiffness, contraction, or spasm.

Squint eyes. Narrowing of the urethra. Impaired vision. Loss of eyesight. Poor vision. Abnormal fingerprints. Abnormality of the mucous membrane layer of stomach. Inward turned thumb. Lazy eye.

Wandering eye. An opening in the wall separating the top two chambers of the heart. Hole in heart wall separating two upper heart chambers. Aortic valve has two leaflets rather than three. Enlarged heart. Increased heart size. Dental cavities. Tooth cavities.

Tooth decay. Clouding of the lens of the eye. Cloudy lens. Decrease in size of the outer layer of the brain due to loss of brain cells. Cardiac failure. Cardiac failures. Heart failure. Undescended testes. Undescended testis. Delayed bone maturation. Delayed skeletal development. Loss of developmental milestones. Mental deterioration in childhood. Difficulty articulating speech. Inability to produce voice sounds.

Gum enlargement. Enlarged and thickened heart muscle. Underdeveloped penis. Abnormally close eyes. Closely spaced eyes. Underactive thyroid. Increased bone density. Joints move beyond expected range of motion. Abnormality of tear production. Intestinal malabsorption. Zygomatic flattening. Enlarged cornea. Short penis. Small penis. Multiple kidney cysts. Heart attack. Muscle tissue disease.

Close sighted. Near sighted. Near sightedness. Too much calcium deposited in kidneys. Kidney stones. Dislocated kneecap. Funnel chest. Sore in the lining of gastrointestinal tract. Early onset of puberty. Early puberty.

Precociously senile appearance. Fused forearm bones. Frequent respiratory infections. Multiple respiratory infections. Susceptibility to respiratory infections.

Narrowing of kidney artery. Extra kidney. Small kidneys. Underdeveloped kidneys. Difficulty sleeping. Trouble sleeping. Premature sudden cardiac death. Noninsulin-dependent diabetes. Type 2 diabetes. Type II diabetes. Hole in heart wall separating two lower heart chambers. Inability to move vocal cords.

Small cerebellum. Underdeveloped cerebellum. Infrequent bowel movements. Decreased muscle tone. Low muscle tone. Prenatal growth deficiency. Prenatal growth retardation. Decreased size of midface. Midface deficiency. Underdevelopment of midface. Obsessive-compulsive traits. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease?

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. 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.

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. This is because having only one changed copy of chromosome 7 in each cell is enough to cause signs and symptoms.

Diagnosis Diagnosis. The diagnosis of Williams syndrome WS is established by genetic testing identifying a specific microdeletion at chromosome 7q Peripheral pulmonic stenosis is common in infancy.

Some have average intelligence. 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.

A statement of reaffirmation for this policy was published on September 1, Find a Specialist Find a Specialist. 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. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials.

We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Organizations Organizations. Organizations Supporting this Disease. Do you know of an organization? Living With Living With. 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. Where to Start MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

This website is maintained by the National Library of Medicine. Marfan syndrome is a genetic condition that affects connective tissues. People with Marfan syndrome tend to be tall with unusually long limbs….

Noonan Syndrome is a genetic condition that is associated with congenital heart disease, bleeding problems, short stature, and unusual facial features. Cushing's syndrome happens when there is too much of the hormone cortisol. Its complex effects include the weight gain, malignancies and a range of….

From feeling like a zombie to having a hand that tries to choke you, we take a look at five of the strangest and rarest medical conditions to exist. Williams syndrome: What you need to know. Medically reviewed by Alana Biggers, M.

Features Causes and diagnosis Treatment Outlook Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality. Share on Pinterest People with Williams syndrome tend to have good social and communication skills. Share on Pinterest Many people with WS love music and have a keen sense of hearing. Causes and diagnosis. Share on Pinterest Physical therapy can help some people with Williams syndrome.

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Medically reviewed by Nancy Carteron, M. What's to know about Noonan syndrome? What is Cushing's syndrome? Medically reviewed by Judith Marcin, M. Five bizarre medical conditions you might not know about From feeling like a zombie to having a hand that tries to choke you, we take a look at five of the strangest and rarest medical conditions to exist.

What is triple X syndrome? Medically reviewed by University of Illinois.