Stickler syndrome, type i, nonsyndromic ocular

Overview

What is Stickler syndrome?

Stickler syndrome is a genetic condition caused by a change (mutation) in genetic information that leads to abnormal development of connective tissue throughout the body. Connective tissue is an important part of many multiple organ systems. The specific health problems present in Stickler syndrome often are different from one individual to another and all of the symptoms may not occur in one person. Stickler syndrome is characterized by specific facial features, a hole in the roof of the mouth (cleft palate), eye and vision problems, hearing loss, and joint issues.

People with Stickler syndrome also may have a flat face with completely flat cheekbones, extreme nearsightedness (myopia), cataracts and problems with the lining on the eye which can cause poor vision. Joint problems can include loose or very flexible joints as well as curving of the spine and flat spine bones.

Sometimes medical issues can be more complicated because of development before birth. This combination of medical issues is called Pierre Robin sequence. These features include an opening in the roof of the mouth (cleft palate), a small chin, and a small tongue. This interferes with feedings and breathing.

There are at least 6 types of Stickler syndrome (numbered I-XI) which each have slightly different symptoms, run through families in specific patterns, and are caused by different gene changes.

References
  • Stickler Syndrome. (2013). U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/stickler-syndrome
  • Jones, K. Stickler syndrome. In: . 6th edition. Philadelphia, PA: Elsevier Saunders; 2006: 318-319.
  • http://www.ncbi.nlm.nih.gov/books/NBK1302/#!po=11.5385
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Are there other names for Stickler syndrome?

How common is Stickler syndrome?

What is Stickler syndrome, type 1?

What is the usual abbreviation for Stickler syndrome?

Are there other names for Stickler syndrome?

Stickler syndrome is also known as hereditary arthro-ophthalmopathy.

References
  • Online Mendelian Inheritance in Man (OMIM):#609508. STICKLER SYNDROME, TYPE 1, NONSYNDROMIC OCULAR. http://www.omim.org/entry/609508
  • National Organization for Rare Disorders (NORD). Stickler syndrome. http://rarediseases.org/rare-diseases/stickler-syndrome/
How common is Stickler syndrome?

Stickler syndrome occurs in about 1 in 7,500 to 9,000 births. The most common form of Stickler syndrome is Type I Stickler syndrome.

References
  • Stickler Syndrome. (2013). U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/stickler-syndrome
What is Stickler syndrome, type 1?

Stickler syndrome is a genetic condition caused by a change (mutation) in genetic information that leads to abnormal development of connective tissue throughout the body. Connective tissue is an important part of many multiple organ systems. The specific health problems present in Stickler syndrome often are different from one individual to another and all of the symptoms may not occur in one person. Stickler syndrome is characterized by specific facial features, a hole in the roof of the mouth (cleft palate), eye and vision problems, hearing loss, and joint issues.

People with Stickler syndrome also may have a flat face with completely flat cheekbones, extreme nearsightedness (myopia), cataracts and problems with the lining on the eye which can cause poor vision. Joint problems can include loose or very flexible joints as well as curving of the spine and flat spine bones.

Sometimes medical issues can be more complicated because of development before birth. This combination of medical issues is called Pierre Robin sequence. These features include an opening in the roof of the mouth (cleft palate), a small chin, and a small tongue. This interferes with feedings and breathing.

There are at least 6 types of Stickler syndrome (numbered 1-6 or in Roman numerals I-VI) which each have slightly different symptoms, run through families in specific patterns, and are caused by different gene changes. Stickler syndrome, type 1 is the most common type of Stickler syndrome and has the highest risk of retinal detachment, which means that the lining of the eye separates from the rest of the eye. Type 1 is caused by mutations in the COL2A1 gene and runs through the family in an autosomal dominant pattern. Autosomal dominant inheritance means that an individual only needs to inherit one copy of a specific mutated gene in order to show symptoms of the disease or condition.

References
  • Stickler Syndrome. (2013). U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/stickler-syndrome
  • Jones, K. Stickler syndrome. In: Smith's Recognizable Pattern of Human Malformation. 6th edition. Philadelphia, PA: Elsevier Saunders; 2006: 318-319.
  • http://www.ncbi.nlm.nih.gov/books/NBK1302/#!po=11.5385
What is the usual abbreviation for Stickler syndrome?

Stickler syndrome is abbreviated as STL.

References
  • National Organization for Rare Disorders (NORD). Stickler Syndrome. http://rarediseases.org/rare-diseases/stickler-syndrome/

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