Stickler syndrome type 1

Common Name(s)

Stickler syndrome type 1

2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stickler syndrome type 1" for support, advocacy or research.

Stickler Involved People

The mission of Stickler Involved People (SIP), a not-for-profit organization, is to educate and give support to all those affected by Stickler syndrome.

Last Updated: 19 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Stickler syndrome type 1" for support, advocacy or research.

Stickler Involved People

The mission of Stickler Involved People (SIP), a not-for-profit organization, is to educate and give support to all those affected by Stickler syndrome.

http://www.sticklers.org

Last Updated: 19 Mar 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Stickler syndrome type 1" returned 3 free, full-text research articles on human participants. First 3 results:

Retinal detachment in identical twins with Stickler syndrome type 1.
 

Author(s): Y Watanabe, M Ueda, E Adachi-Usami

Journal: Br J Ophthalmol. 1996 Nov;80(11):976-81.

 

The high incidence of retinal detachment and its poor surgical prognosis in patients with Stickler syndrome are well known. However, the vitreoretinal relation to retinal detachment in this syndrome is uncertain.

Last Updated: 9 Jan 1997

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A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.
 

Author(s): A J Richards, J R Yates, R Williams, S J Payne, F M Pope, J D Scott, M P Snead

Journal: Hum. Mol. Genet.. 1996 Sep;5(9):1339-43.

 

Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding ...

Last Updated: 8 Jan 1997

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Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha 1-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy)
 

Author(s): J Körkkö, P Ritvaniemi, L Haataja, H Kääriäinen, K I Kivirikko, D J Prockop, L Ala-Kokko

Journal: Am. J. Hum. Genet.. 1993 Jul;53(1):55-61.

 

A search for mutations in the gene for type II procollagen (COL2A1) was carried out in affected members of a family with early-onset cataracts, lattice degeneration of the retina, and retinal detachment. They had no symptoms suggestive of involvement of nonocular tissues, as is typically ...

Last Updated: 23 Jul 1993

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Stickler syndrome type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.