How is Marshall syndrome treated?

How is Marshall syndrome treated?

Many treatments have been used, with various results, including antibiotics, nonsteroidal anti-inflammatory drugs, acetylsalicylic acid, colchicine, antiviral medicines, steroids, cimetidine, and tonsillectomy.

How many people have Marshalls syndrome?

Marshall-Smith Syndrome is a rare disorder that has only been documented in about 50 individuals worldwide. It appears to affect males and females equally. Symptoms are typically present at birth, such as the previously escribed characteristic facial features.

What causes Marshall syndrome?

Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss.

Is Marshall syndrome hereditary?

Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome.

What is Weaver’s disease?

Weaver Syndrome (WS) is a genetic condition which causes fast growth. Children usually start having symptoms before birth (prenatal onset). The primary symptom is growth and bone development (maturation) that occurs faster than usual, so affected individuals are taller than average.

Can PFAPA be cured?

There is no medication that can cure PFAPA. Steroids like prednisone given at the start of an attack can shorten the length of the attack quite a bit. Sometime two doses, 24 hours apart, are needed. However, the attacks may happen a little more often if steroids have been used.

Is PFAPA life long?

PFAPA does not cause severe symptoms or long-term complications. PFAPA syndrome usually goes away on its own in the second decade of life.

Is there a cure for Bloom’s syndrome?

There is no cure for Bloom syndrome. Children with Bloom syndrome need nutritional monitoring to ensure maximum growth. People with the disease are advised to stay out of the sun and wear sunscreen to prevent skin lesions, particularly during childhood. They should also make an effort to avoid infection of all kinds.

Does Weaver syndrome affect your voice?

Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay.