What is the prevalence of Marshall syndrome - PFAPA?
How many people does Marshall syndrome - PFAPA affect? Does it have the same prevalence in men and women? And in the different countries?
Marshall syndrome is a rare genetic disorder characterized by distinctive facial features, joint abnormalities, and hearing loss. It is estimated to affect a very small number of individuals worldwide, making it a highly uncommon condition. The exact prevalence of Marshall syndrome is not well-established, as it is often misdiagnosed or underdiagnosed due to its rarity and overlapping symptoms with other conditions. However, research suggests that it is extremely rare and occurs in less than 1 in 100,000 individuals. Further studies are needed to determine the precise prevalence and better understand this syndrome.
Marshall syndrome is a rare genetic disorder characterized by a variety of symptoms affecting different parts of the body. It is also known as PFAPA syndrome, which stands for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis.
The prevalence of Marshall syndrome is not well-established due to its rarity and the lack of comprehensive studies. However, it is considered to be a relatively uncommon condition. The exact number of affected individuals is unknown, but it is estimated to occur in less than 1 in 10,000 people.
Marshall syndrome typically manifests in early childhood, with symptoms recurring periodically. The most prominent features include recurrent episodes of fever, mouth ulcers (aphthous stomatitis), sore throat (pharyngitis), and swollen lymph nodes in the neck (cervical adenitis). These episodes can last for a few days to a week and may occur at regular intervals.
While the exact cause of Marshall syndrome is not fully understood, it is believed to have a genetic basis. Mutations in the COL11A1 gene have been associated with the condition, which affects the production of collagen in the body.
Diagnosis of Marshall syndrome is typically based on clinical evaluation, medical history, and ruling out other possible causes of the symptoms. Treatment mainly focuses on managing the symptoms and providing relief during episodes, often through the use of anti-inflammatory medications.
It is important to consult with a healthcare professional for an accurate diagnosis and appropriate management of Marshall syndrome.
