What causes Williams syndrome?
Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.
What causes Shwachman Diamond Syndrome?
SDS is caused by a mutation in a gene known as SBDS. SDS is a recessively inherited disorder, meaning that a child must inherit two defective copies of the gene (one from each parent) to develop the disease. In most cases, the parents show no signs of the syndrome.
What are the symptoms of Williams syndrome?
What are the symptoms of Williams syndrome?
- specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips.
- colic or feeding problems.
- attention deficit hyperactivity disorder (ADHD)
- learning disorders.
- inward bend of pinky finger.
- specific phobias.
- short stature.
- speech delays.
Why is Williams syndrome called the Happy syndrome?
Williams sufferers tend to be elfin-looking, which was why the disorder was originally called elfin facies syndrome. They have narrow chins, prominent ears, high cheekbones, and upturned noses. It is caused by a very small genetic deletion, about 26 to 28 missing genes on chromosome 7.
What is the William syndrome?
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
What is the life expectancy of a person with Shwachman-Diamond syndrome?
Life expectancy of patients with SDS is expected to be >35 years. However, those with significant haematological abnormalities, including AML, have significant morbidity and mortality and subsequently reduced life expectancy.
Is there a cure for Shwachman syndrome?
The only curative therapy for individuals with Shwachman syndrome is a hematopoietic stem cell transplant (HSCT). Hematopoietic stem cells are specialized cells found in the bone marrow (the soft spongy material found in long bones).
What is pancreatic insufficiency?
Pancreatic Insufficiency (EPI) is a condition which occurs when the pancreas does not make enough of a specific enzyme the body uses to digest food in the small intestine. The pancreas is a glandular organ. That means the pancreas secretes juices that maintain the proper function of the body.
What are the main causes of Cubitus valgus?
The main bones affected are radius, ulna and humerus. Malnutrition is also a reason behind it. Turner’s syndrome is also considered a main cause behind this cubitus valgus. The main visible physical symptom of cubitus valgus is bending of arm. The angle between body and arm is more than normal value that is greater than 15 degrees.
When to seek treatment for Cubitus valgus pain?
In most cases, you will only need to seek treatment if cubitus valgus is compressing your ulnar nerve. However, it’s important to seek treatment if you begin to experience pain, numbness, or weakness in your arms or fingers. This could be a sign of nerve damage.
What is the cause of Cubitus varus in the elbow?
Congenital cubitus varus is an unlikely cause for the deformity; however, it does occur rarely. The cause is epiphyseal dysplasia of the humerus, whereby the epiphysis angulates towards the midline, which decreases the carrying angle of the elbow joint.
How does ulnar nerve palsy affect cubitus valgus?
This is a chronic condition that is commonly associated with cubitus valgus. Ulnar nerve palsy is progressive, in that it usually gets worse over time. You may experience a loss of sensation in your fingers, especially your ring and little finger, as well as loss of coordination, tingling and burning, pain, and weakness.