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What is Silver Russell syndrome?
Summary. 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.
Who discovered Russell-Silver syndrome?
Henry Silver discovered certain features of Russell-Silver syndrome in 1953. Dr. Alexander Russell discovered additional features of the condition in 1954. For almost 20 years, researchers thought Silver and Russell had found two separate conditions.
Is Russell-Silver syndrome recessive or dominant?
Inheritance. 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 the life expectancy of someone with Russell-Silver syndrome?
Although adolescents and adults with Russell-Silver syndrome will be shorter than average, Russell-Silver syndrome does not significantly impact life expectancy.
Can people with Russell Silver syndrome have children?
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.
Is Russell Silver syndrome a form of dwarfism?
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome (RSS), and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
Is FOXG1 syndrome autism?
FOXG1 is linked to major brain disorders like Autism, and more. Research shows FOXG1 plays a role in autism, Alzheimer’s, schizophrenia, and epilepsy. This article led by scientist Dr Flora Vaccarino at Yale University showcases FOXG1 plays a critical role in the development of autism spectrum disorders (ASD).
Is FOXG1 inherited?
FOXG1 syndrome involves a change or misspelling in a gene called the FOXG1 gene. Even though this is a genetic disorder, the change on the gene is new to the patient and not inherited from parents.
How rare is FOXG1?
Their daughter had FOXG1 syndrome, a condition so rare that only about 300 people worldwide are currently known to have it. This devastating neurological disorder can cause major developmental and cognitive disabilities.