Is Marshall syndrome fatal?
It appears from the medical literature that individuals with Marshall syndrome may have relatively normal life expectancy. The main features of Marshall syndrome are not expected to be life-threatening, though the severity of symptoms may vary among affected individuals.
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.
What caused Marshall-Smith Syndrome?
There are indications that Marshall-Smith syndrome is caused by a change (mutation) in the NFIX gene. This gene plays an important role in transcription initiation for various genes. In human embryonic development, expression of NFIX can be detected during brain and skeletal development.
Is Marshall Syndrome a disability?
Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss….
| Marshall syndrome | |
|---|---|
| Other names | Deafness, myopia, cataract, saddle nose-Marshall type |
Is saddle nose hereditary?
The saddle-nose defect can be traced vertically in three preceding generations without the presence of detected auditory or visual defects. It is postulated that this syndrome is a genetic disease transmitted as an autosomal dominant with variable expressivity.
How long do people with Smith Magenis syndrome live?
What is the life expectancy of individuals with SMS? As it is a relatively ‘new’ syndrome, there isn’t a detailed knowledge of the’average’ life expectancy. However it is known that there was an adult with SMS who lived until she was 88 years old, and there are several adults with SMS in their 40’s and 50’s.
What is Marshall White syndrome?
Marshall–White syndrome is a skin condition that consists of Bier spots associated with insomnia and tachycardia.
Are there any celebrities with Williams syndrome?
Several famous (or recognizable) people have been diagnosed with Williams syndrome, which include: Amy Kotch, featured in KLRU-TV’s public media. Gloria Lenhoff, a soprano singer who has performed with Aerosmith, and the San Diego Master Chorale. Ben (Big Red) Monkaba, a member of the Black Cat community theater.
Can you have Williams syndrome without knowing?
Typical characteristics include distinctive facial features, mild intellectual disability and an overly sociable personality. Williams syndrome may be undiagnosed, which means that many people with the disorder fail to get the support and treatment they need until later in life.
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.
Why is my nose bridge so low?
The degree of flatness can vary depending on the person. A low nasal bridge is completely normal for many people of Asian and African descent. An infectious disease or genetic disorder can sometimes cause a low nasal bridge, which is also called saddle nose.
What are the signs and symptoms of Marshall syndrome?
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature .
What kind of disease is Marshall Smith syndrome?
Marshall-Smith syndrome (MRSHSS) is a genetic disorder in which individuals typically have advanced bone age, difficulties gaining weight (failure to thrive), unique facial features, and intellectual disability.
How is Marshall syndrome related to Stickler syndrome?
Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.
Is the lifespan of people with Marshall Syndrome shortened?
Only one article in the medical literature stated that lifespan may be shortened because of this condition; the authors suggested that respiratory problems related to Marshall syndrome may lead to a reduced lifespan. [7] However, respiratory problems are currently not considered a feature of this disease and no other article mentions this concern.