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.
How is RSS diagnosed?
Testing for known genetic causes of RSS (chromosome 7 and 11) can confirm the clinical diagnosis in up to 60% of
individuals
. Knowing the underlying genetic cause can also help guide treatment as some problems are more common in association with abnormalities of chromosome 7 or 11.
Can you outgrow Russell-Silver syndrome?
Some
children naturally outgrow the disorder within a few years
, but others may need to continue treatment for the rest of their lives.
How common is Russell-Silver syndrome?
The exact incidence of Russell-Silver syndrome is unknown. Worldwide estimates range from
1 in 30,000 to 1 in 100,000 people
.
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.
Is Russell-Silver syndrome a genetic disorder?
Most cases of Russell-Silver syndrome are sporadic, which means they occur in people with no history of the disorder in their family.
Rarely, Russell-Silver syndrome can run in families
. In some affected families, the condition appears to have an autosomal dominant pattern of inheritance.
What is small child syndrome?
Short stature for which there is no underlying cause (called “idiopathic short stature”) is defined by the U.S. Food and Drug Administration (FDA) as when
a child’s height is two standard deviations from the mean or when the predicted height
.
What is Bloom’s syndrome?
Listen to pronunciation. (… SIN-drome) A
rare, inherited disorder
Is there a disease that makes you shorter?
Many disorders can cause short stature, including
achondroplasia
, hormone deficiency, delayed puberty, Cushing’s disease, malnutrition, malabsorption disorders, such as celiac disease, and others.
What is Silverman syndrome?
Silver syndrome
Can you get pregnant with Russell Silver syndrome?
Abstract. An adult female with typical features of Silver-Russell dwarfism gave birth to a viable infant. Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome,
fertility is not necessarily impaired
, at least in females.
What causes poor growth?
Malnutrition
is the most common cause of growth failure around the world. severe stress. endocrine (hormone) diseases, such as diabetes or a lack of thyroid hormones, which are necessary for normal bone growth. syndromes (genetic disorders).
What disorder causes short arms?
Achondroplasia
is the most common type of these disorders. It causes the strong, flexible tissue called cartilage to not be made into bone as normal. This causes a series of signs, such as short arms and legs and a large head. This condition used to be called dwarfism.
What are symptoms of Jacobsen syndrome?
The signs and symptoms of Jacobsen syndrome can vary. Most affected people have
delayed development of motor skills and speech; cognitive impairment
; and learning difficulties. Behavioral features have been reported and may include compulsive behavior; a short attention span; and distractibility.
What is First Born syndrome?
Firstborn children are
thrust into a leadership role from the time they gain a younger sibling
. That spells decades of at-home leadership experience, which, at times, could be plain bossiness. They like to be in charge. A few firstborns will have trouble delegating; they will not trust others to do the job well enough.
Can a Down syndrome child look normal?
People with
Down syndrome all look the same
. There are certain physical characteristics that can occur. People with Down syndrome can have all of them or none. A person with Down syndrome will always look more like his or her close family than someone else with the condition.
