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Stickler syndrome

**{{{Name|Stickler syndrome}}}**
[[Image:{{{Image}}}\|190px\|center\|]] {{{Caption\|}}}
ICD-10	Q87.8
ICD-O:	{{{ICDO}}}
ICD-9	756.0
OMIM	}}}
MedlinePlus	}}}
eMedicine	}}}
DiseasesDB	}}}

Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissuedisorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965.^{[{{fullurl:Template:FULLPAGENAME}}#endnote_Stickler]} Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

Inhaltsverzeichnis

1 Types
2 Causes
3 Symptoms
4 Genetics
5 Scientists involved
6 Treatment
7 Epidemiology
8 See also
9 References
10 External links

Types

Genetic changes are related to the following types of Stickler syndrome:

Stickler syndrome, COL11A1
Stickler syndrome, COL11A2
Stickler syndrome, COL2A1

Stickler syndrome is a subtype of collagenopathy, types II and XI.

Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes.

Causes

The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominanttrait meaning person with the syndrome has a 50% chance of passing it on to each child. There are three variants of Stickler syndrome, each associates with a collagen biosynthesis gene.

Symptoms

Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have almost no signs and symptoms; others have all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.

A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped cleft palate(an opening in the roof of the mouth) with a tonguethat is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to frequent ear infectionsand swallowing difficulties.

Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (glaucoma) and tearing of the lining of the eye (retinal detachment). The jelly-like substance within the eye(the vitreous) has a distinctive appearance in the types of Stickler syndrome associated with the COL2A1and COL11A1genes. The type of Stickler syndrome associated with the COL11A2gene does not affect the eye.

Another sign of Stickler syndrome is mild to severe hearing lossthat, for some people, may be progressive. The joints of affected children and young adults may be very flexible (hypermobile). Arthritisoften appears at an early age and worsens as a person gets older. Learning difficulties can also occur because of hearing and sight impairments.

Genetics

Mutations in the COL11A1, COL11A2and COL2A1genescause Stickler syndrome. These genes are involved in the production of type II and type XI collagen. Collagens are complex molecules that provide structure and strength to connective tissue (the tissue that supports the body's jointsand organs). Mutationsin any of these genes disrupt the production, processing, or assembly of type II or type XI collagen. Defective collagen molecules or reduced amounts of collagen affect the development of bones and other connective tissues, leading to the characteristic features of Stickler syndrome.

Other, as yet unknown, genes may also cause Stickler syndrome because not all individuals with the condition have mutations in one of the three identified genes.

Scientists involved

Scientists associated with the discovery of this syndrome include:

B. David
Pierre Robin
Gunnar B. Stickler
Hans Wagner
G. Weissenbacher
Ernst Zweymller

Treatment

Many professionals are likely to be involved in the treatment of those with Stickler's Syndrome, including ophthalmologists, audiologistsand rheumatologists.

Epidemiology

Overall, the estimated prevalence of Stickler syndrome is about 1 in 10,000 people.

References

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External links

Information about Stickler Syndromefrom Seattle Children's Craniofacial Center
Stickler Syndrome Support Group
Vision Support Guide
Another Stickler Syndrome support groupfr:Syndrome de Stickler

This article is licensed under the GNU Free Documentation License.
It uses material from the http://en.wikipedia.org/wiki/Stickler+syndrome Wikipedia article Stickler syndrome.

All text is available under the terms of the GNU Free Documentation License

Stickler syndrome

Inhaltsverzeichnis

Types

Causes

Symptoms

Genetics

Scientists involved

Treatment

Epidemiology

See also

References

External links