What is Williams Syndrome? Causes, symptoms and treatment

William's syndrome is a syndrome caused by an abnormal chromosome, the patient has all 23 pairs of chromosomes, but the 7th pair of chromosomes is missing a gene segment that causes growth and development disorders. To better understand William's syndrome, its causes, symptoms and treatment, please refer to the following article of SignsSymptomsList!

William's syndrome is a very rare genetic disorder that causes growth and development disorders. This disorder affects many parts of the body such as intelligence, gestures, behavior, facial features as well as cardiovascular problems. For useful information about this syndrome, please join us to learn the following article.

What is William's Syndrome?

William's syndrome is an inherited neurological disorder that causes learning difficulties, mental retardation, high blood and urine calcium levels, and an extroverted personality.

People with William syndrome often have an unusual appearance compared to the average person, that is, the bridge of the nose is low. In addition, people with this syndrome often have a high sociable personality and good communication skills. However, high communication skills can mask other developmental problems and sometimes make diagnosis more difficult.

Challenges faced by a person with William's syndrome include difficulty understanding spatial relationships, numbers, abstract reasoning, and some potentially life-threatening complications such as heart disease, high blood calcium levels.

William syndrome occurs because about 25 - 28 genes are deleted from chromosome 7. However, the incidence of this syndrome is very low, according to statistics from the National Organization for Rare Diseases (NORD) showing that , William syndrome occurs in about 10,000 to 20,000 babies born in the United States.

William's syndrome is caused by a genetic disorder

Causes of William's Syndrome

William's syndrome is caused by a genetic disorder in which about 25-28 genes are missing. One of those genes makes the protein elastin. Elastin is a substance that gives elasticity and elasticity to blood vessels and other body tissues. The lack of elastin in this syndrome causes blood vessels to narrow, causing the skin to stretch and joints to become looser.

William is a genetic syndrome, if one parent has the disease, the rate of inheritance to the next generation can be up to 50%. Your doctor will consider clinical features, including facial features and cardiovascular symptoms. However, these features are not specific to this syndrome and not all people with the condition have the same symptoms.

Your doctor will order more specialized tests. Blood tests are done to check if calcium levels in the blood are high. In addition, several other genetic tests need to be done for a more accurate diagnosis. More than 99% of cases are diagnosed using fluorescence in situ hybridization or testing for genetic abnormalities.

Symptoms seen in William's syndrome

Some of the possible symptoms of William's syndrome include:

• Facial features change such as small and upturned nose, long upper lip, wide mouth, large eye bags, small chin, full lips.
• A lace band may appear and develop around the iris. In adults there may be an elongated face and neck.
• Possible heart and blood vessel problems include narrowing of the aorta, pulmonary artery, and high blood pressure. People with this syndrome need to be monitored for these problems regularly.
• Increased calcium in the blood and urine. This condition can cause colic-like symptoms and discomfort in infants.
• Sleep disturbances and take a long time to change.
• Connective tissue abnormalities increase the risk of hernias, other problems with bones and joints, ligaments, lax skin, lack of firmness, and a hoarse voice. Musculoskeletal problems can directly affect muscles and bones. Joints may be loose, muscle tone may be low in the early stages. Muscle spasticity or stiffness may develop.
• Possible eating problems include: Vomiting, decreased muscle tone, difficulty suckling, difficulty swallowing, limited tactile response. These problems mostly tend to subside over time.
• Low birth weight may predispose to a diagnosis of developmental delay. Most adults with William's syndrome will be smaller than average.
• Intellectual and developmental characteristics that may be associated with mild to severe learning problems, limited cognitive ability. Also may have difficulty with spatial relationships, specific motor skills.
• Teeth can have unusual shapes such as wide, slightly small, teeth that are wider than normal. In addition, there may be an abnormality of the bite.
• However, speech, social skills, and memory are often very well developed. This is demonstrated by a high level of expressive language and acumen in communication, especially in adults. Most children with William syndrome are not afraid of strangers.

People with William syndrome have a small, upturned nose, wide mouth, full lips

Treatment and prevention of William's syndrome

A special diet low in Vitamin D is recommended to reduce and limit calcium intake. According to NORD, blood calcium levels usually return to normal after 12 months, even without treatment in many cases. Children with William's syndrome are advised not to take Vitamin D supplements to avoid an increase in blood calcium levels.

Treatment includes supportive interventions for those with intellectual and physical development difficulties such as:

• Special education, vocational training.
• Support language development, physical, living, occupational, sensory integration therapy.
• Behavioral counseling.
• Medication is available if the person has attention deficit disorder (ADD) and anxiety.
• Dentists can help with dental problems.
• Specialist intervention may be needed for cardiovascular problems.
• Genetic testing counseling is increasingly popular and is essential for families with members of William's syndrome as well as other genetic diseases.

A special diet low in Vitamin D is recommended for people with William's syndrome

Hopefully, the above article has helped you better understand William's syndrome , understand its causes, possible symptoms as well as treatment methods for this syndrome. If you have any questions about this syndrome, you can consult a specialist doctor. Wish you good health and don't forget to follow the next articles of SignsSymptomsList!