What is Silver syndrome?

What is Silver syndrome?

Silver syndrome is a complex hereditary spastic paraplegia. The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting.

What are the symptoms of Russell-Silver syndrome?

Russell-Silver syndrome (RSS) is a rare disorder characterized by intrauterine growth restriction (IUGR), poor growth after birth, a relatively large head size, a triangular facial appearance, a prominent forehead (looking from the side of the face), body asymmetry and significant feeding difficulties.

How does Russell-Silver syndrome happen?

Researchers suspect that 30 to 50 percent of all cases of Russell-Silver syndrome result from changes in a process called methylation on the short (p) arm of chromosome 11 at position 15 (11p15). Methylation is a chemical reaction that attaches small molecules called methyl groups to certain segments of DNA.

What is the name of a swollen testicle?

Most cases of orchitis caused by bacteria need treatment right away. If you notice redness, swelling, pain, or inflammation of the scrotum or testicle, call your doctor right away. These can also be symptoms of a serious condition called testicular torsion, which is when one of your testicles is twisted.

Is Russell-Silver syndrome life threatening?

Although adolescents and adults with Russell-Silver syndrome will be shorter than average, the syndrome does not significantly impact life expectancy. Russell-Silver syndrome is now thought to be a genetic disorder, caused by abnormalities in either chromosome 7 or chromosome 11.

How do you test for Russell-Silver syndrome?

HOW IS RUSSELL-SILVER SYNDROME DIAGNOSED? Molecular Testing: Russell-Silver syndrome can be diagnosed with genetic testing; but negative genetic testing does not rule out a clinical diagnosis. Currently, genetic testing can be run for known causes of Russell-Silver Syndrome involving chromosomes 7 and 11.

Can a swollen testicle heal on its own?

Idiopathic swelling refers to swelling that a doctor has been unable to identify a reason for. This is more common among children, but it can affect males of any age. This type of swelling may appear suddenly. It is painless and usually goes away on its own within around 3–6 days .

Can Russell-Silver syndrome cure?

Treatment for Russell-Silver Syndrome Treatment for RSS focuses on treating its symptoms so the child can develop as normally as possible. Treatments to help with growth and development include: a nutrition schedule with specified snack and meal times. growth hormone injections.

How rare is Bardet Biedl syndrome?

In most of North America and Europe, Bardet-Biedl syndrome has a prevalence of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the island of Newfoundland (off the east coast of Canada), where it affects an estimated 1 in 17,000 newborns.

What is Beckwith Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.

What are the symptoms of testicular torsion in boys?

Testicular torsion can occur at any time in a man’s life but is most common in young boys between the ages of 12 to 18. The most common symptoms for this condition include:

How big is the average liver for a 6 year old boy?

The following are the results of the study measuring the average liver length for boys: Age Liver length (Boys) 4 to 6 years 4.1 in. (10.3 cm) 6 to 8 years 4.3 in. (10.8 cm) 8 to 10 years 4.7 in. (11.9 cm) 10 to 12 years 5.0 in. (12.6 cm)

Is it normal for my testicle to be swollen?

This is when fluid collects around the testicle and is often harmless. The excess fluid causes a significant amount of scrotal swelling and discomfort described as a “heavy pulling feeling.”

What causes swelling in the testicles and epididymis?

Orchitis This condition is an infection of the testicle and sometimes the epididymis (epididymo-orchitis). Orchitis is when one or both of the testicles are inflamed or swollen. Many different types of bacteria and viruses are the culprits for orchitis such as the mumps or sexually transmitted infections like gonorrhea or chlamydia.