Is Marshall syndrome hereditary?

Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.

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.

What causes 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.

Which chromosome does Stickler syndrome affect?

Stickler syndrome type V (STL5) is thought to be caused by COL9A2, located on chromosome 1p33. This has been described in one intermarried family in India. The inheritance pattern is autosomal recessive.

Is there a cure for Marshall syndrome?

There is no medical treatment for either syndrome but there are some recommendations that can help with prevention or early identification of some of the problems. Children with either syndrome should have their hearing tested, and adults should be aware that the hearing loss may not develop until the adult years.

What is 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.

Does Stickler syndrome get worse with age?

Keep in mind that Stickler syndrome is a progressive disorder, so your child’s symptoms are likely to become more severe with age. However, a cleft palate is apparent at birth and is not a progressive condition.

Is Pierre Robin syndrome a rare disease?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

Is Pierre Robin inherited?

Isolated Pierre Robin sequence is usually not inherited. It typically results from new (de novo) genetic changes and occurs in people with no history of the disorder in their family.

Where is Marshall syndrome located on the chromosome?

Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the collagen XI, alpha-1 polypeptide (COL11A1) gene located on chromosome 1p21.1. Typically mutations causing Marshall syndrome are splice site mutations involving base pair insertions or deletions of intron 50.

What are the signs and symptoms of Marshall syndrome?

General Discussion. 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 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.

How is Marshall syndrome related to Stickler syndrome?

Marshall syndrome and Stickler syndrome is inherited in an autosomal dominant pattern. Marshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes which are uncommonly large, joints and the mouth and facial structures.

Is Marshall syndrome hereditary? Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial. Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion. Is Marshall syndrome fatal? It appears from the medical literature that individuals with Marshall syndrome…