FRASIER SYNDROME Meaning and
Definition
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Frasier syndrome is a rare genetic disorder that primarily affects the kidneys and reproductive system. It is named after the American pediatrician and geneticist, Dr. Robert L. Frasier, who first described the condition in 1964.
In Frasier syndrome, individuals are born with an abnormality in the structure and function of their kidneys. This results in the progressive loss of kidney function over time, leading to chronic renal failure. Additionally, affected individuals may have other kidney-related problems such as proteinuria (excessive protein in the urine) and nephrotic syndrome (a condition characterized by fluid retention and high levels of protein in the urine).
Another hallmark feature of Frasier syndrome is the development of gonadal dysgenesis, which affects the development of reproductive organs. Individuals with this condition typically have ambiguous genitalia, and in the majority of cases, they are genetically male (with one X and one Y chromosome), despite having female external genitalia.
The underlying cause of Frasier syndrome is mutations in the Wilms tumor 1 (WT1) gene, which is involved in the normal development and function of both the kidneys and reproductive system. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene from either parent is sufficient to cause the syndrome.
Management of Frasier syndrome typically involves monitoring kidney function and treating associated complications. In some cases, renal transplantation may be necessary to restore normal kidney function. Genetic counseling is also important for affected individuals and their families to understand the risk of passing on the syndrome to future generations.
Common Misspellings for FRASIER SYNDROME
- drasier syndrome
- crasier syndrome
- vrasier syndrome
- grasier syndrome
- trasier syndrome
- rrasier syndrome
- feasier syndrome
- fdasier syndrome
- ffasier syndrome
- ftasier syndrome
- f5asier syndrome
- f4asier syndrome
- frzsier syndrome
- frssier syndrome
- frwsier syndrome
- frqsier syndrome
- fraaier syndrome
- frazier syndrome
- fraxier syndrome
- fradier syndrome
Etymology of FRASIER SYNDROME
The term Frasier Syndrome is the eponymous name for a rare genetic disorder known as Frasier syndrome or Frasier-like syndrome. It is named after the fictional character Dr. Frasier Crane from the television sitcoms Cheers and Frasier.
The disorder was first described in 1964 by pediatric nephrologist Dr. Julian Frasier, who noticed a specific pattern of symptoms in two patients. The term Frasier syndrome was later coined to identify this specific condition.
It is worth noting that Frasier syndrome is often used colloquially, and it is not an officially recognized medical term. The correct medical term for this genetic disorder is familial nephropathy with early-onset, steroid-resistant nephrotic syndrome or WT1-related nephrotic syndrome.
