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stickler syndrome - connective tissue disorder
Definition for Stickler Syndrome
Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen.
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Stickler syndrome (or David-Stickler syndrome or Stickler-Wagner syndrome) is a group of inherited connective tissue disorders affecting collagen. It was first studied and characterised by Dr. G.B. Stickler in 1965. 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.
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some common symptoms
difficulty breathing
face deformities
gap in palate
poor appetite
some related diagnoses
1 - 7 of
175
diagnoses
relapsing polychondritis
Crohn Disease
congenital heart disease
inflammatory bowel disease
coccidiodomycosis
Von Willebrand's disease
myositis
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do i have 'Stickler Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'stickler syndrome'
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diagnostic tests
ECHOcardiogram
Stickler Syndrome and ECHOcardiogram
EKG
Electrocardiogram
Stickler Syndrome and EKG
Hearing test
standard technique of representing hearing loss
Stickler Syndrome and Hearing test
vision tests
Stickler Syndrome and vision tests
Amniocentesis
Stickler Syndrome and Amniocentesis
Chorionic Villus Sampling (CVS)
Stickler Syndrome and Chorionic Villus Sampling (CVS)
Molecular Genetic Studies
Stickler Syndrome and Molecular Genetic Studies
Comprehensive eye exam
Stickler Syndrome and Comprehensive eye exam
speech reception threshold (SRT)
Stickler Syndrome and speech reception threshold (SRT)
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therapeutic procedures for 'Stickler Syndrome'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Stickler Syndrome:
therapeutic procedure search results for 'stickler syndrome'
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Hearing aids
instruments to enable a person to hear
Stickler Syndrome and Hearing aids
Repair of cleft palate
Stickler Syndrome and Repair of cleft palate
Corrective lenses
Stickler Syndrome and Corrective lenses
Craniofacial reconstruction
Stickler Syndrome and Craniofacial reconstruction
Special Education
Stickler Syndrome and Special Education
Speech Therapy
Stickler Syndrome and Speech Therapy
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medications search results for 'stickler syndrome'
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aspirin
Stickler Syndrome and aspirin
ibuprofen
Stickler Syndrome and ibuprofen
naproxen
Stickler Syndrome and naproxen
web search results for stickler syndrome
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1 - 50
- Stickler Syndrome
Stickler syndrome - Wikipedia, the free encyclopedia
Stickler syndrome is characterized by a distinctive facial appearance, eye ... Stickler's syndrome, or congenital, progressive arthro-ophthalmopathy, refers to ...
http://en.wikipedia.org/wiki/Stickler_syndrome
en.wikipedia.org
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summary
Stickler syndrome - Genetics Home Reference
A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. ... Most people with Stickler syndrome have skeletal abnormalities ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome
ghr.nlm.nih.gov
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Stickler Syndrome - Yahoo! Health
Important It is possible that the main title of the report Stickler Syndrome is not the name you expected. Please check the synonyms listing to find the alternate ...
http://health.yahoo.com/musculoskeletal-resources/stickler-s...
health.yahoo.com
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Stickler Syndrome -- GeneReviews -- NCBI Bookshelf
Variable phenotypic expression of Stickler syndrome occurs both within families ... Stickler syndrome is inherited in an autosomal dominant manner. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=stickler
www.ncbi.nlm.nih.gov
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Stickler Syndrome
Stickler syndrome is a connective tissue disorder that can include ... phenotypic expression of Stickler syndrome occurs both within families and among ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Orphanet: Stickler syndrome
The portal for rare diseases ... Stickler syndrome is an inherited vitreoretinopathy ... Stickler syndrome type 1 is caused by mutations in the COL2A1 ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=828
www.orpha.net
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Stickler syndrome - References - Genetics Home Reference
Visual complications of Stickler syndrome in paediatric patients with Robin sequence. ... Genetics and hearing loss: a review of Stickler syndrome. J Commun Disord. ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome/show/References
ghr.nlm.nih.gov
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Stickler syndrome - MedlinePlus - Health information - Genetics Home ...
... in the Genetics Home Reference condition summary on Stickler syndrome. Encyclopedia: Pierre Robin syndrome. Health Topic: Cleft Lip and Palate ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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summary
Clinical variability of Stickler syndrome: role of exon 2 of the ...
Stickler syndrome (progressive arthro-ophthalmopathy) is a genetically ... At least 17 different mutations causing Stickler syndrome have been reported in this gene. ...
http://www.ncbi.nlm.nih.gov/pubmed/12686304
www.ncbi.nlm.nih.gov
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Stickler syndrome - OMIM - Genetic disorder catalog - Genetics Home ...
OMIM: Stickler syndrome, type I. OMIM: Stickler syndrome, type II. OMIM: Stickler syndrome, type III. Reviewed: July 2008. Published: April 10, 2009 ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome/show/OMIM
ghr.nlm.nih.gov
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summary
A family with Stickler syndrome type 2 has a mutation in the COL11A1 ...
Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited ... Families with Sticklers syndrome type 1 have a characteristic congenital ...
http://www.ncbi.nlm.nih.gov/pubmed/8872475
www.ncbi.nlm.nih.gov
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Stickler syndrome - OMIM - Genetic disorder catalog - Genetics Home ...
OMIM: Stickler syndrome, type I. OMIM: Stickler syndrome, type II. OMIM: Stickler syndrome, type III. Reviewed: July 2008. Published: April 17, 2009 ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome/show/OMIM;...
ghr.nlm.nih.gov
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Clinical features of type 2 Stickler syndrome.
1: J Med Genet. 2004 Aug;41(8):e107. Clinical features of type 2 Stickler syndrome. ... Syndrome. Substances: Collagen Type XI. PMID: 15286167 [PubMed ...
http://www.ncbi.nlm.nih.gov/pubmed/15286167
www.ncbi.nlm.nih.gov
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Stickler syndrome - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this ... The cause of Stickler syndrome is a gene mutation that ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831
www.mayoclinic.com
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summary
Stickler syndrome - Patient support - For patients and families ...
... in the Genetics Home Reference condition summary on Stickler syndrome. ... Resource list from the University of Kansas Medical Center. Stickler Involved People ...
http://ghr.nlm.nih.gov/condition=sticklersyndrome/show/Patie...
ghr.nlm.nih.gov
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The Stickler syndrome is closely linked to COL2A1, the structural gene ...
The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen. ... Restriction Mapping. Syndrome. Substances: Collagen. PMID: ...
http://www.ncbi.nlm.nih.gov/pubmed/3222200
www.ncbi.nlm.nih.gov
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summary
Stickler Syndrome
Important It is possible that the main title of the report Stickler Syndrome is not the name you expected. ...
http://www.webmd.com/children/Stickler-Syndrome-10892
www.webmd.com
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Stickler syndrome: Symptoms - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this ... and symptoms of Stickler syndrome ? and the severity of ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=2
www.mayoclinic.com
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Marshall syndrome - Wikipedia, the free encyclopedia
Myopia also is the most common problem with the eyes in Stickler syndrome. ... Some families with Stickler Syndrome have been shown to have mutations in the ...
http://en.wikipedia.org/wiki/Marshall_syndrome
en.wikipedia.org
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Stickler syndrome: Complications - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this rare inherited disorder. ... resulting from Stickler syndrome. ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=5
www.mayoclinic.com
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Chromosome 1 - Conditions related to genes on chromosome 1 - Genetics ...
popliteal pterygium syndrome. porphyria. Stickler syndrome. thiamine-responsive megaloblastic anemia syndrome. trimethylaminuria ...
http://www.ghr.nlm.nih.gov/chromosome=1/show/Conditions
www.ghr.nlm.nih.gov
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Stickler syndrome: All - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this ... loss associated with Stickler syndrome tends to worsen ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/M...
www.mayoclinic.com
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medical terms, dictionary and encyclopedia
Severe acute respiratory syndrome. Severe combined immunodeficiency disease ... Stickler. Stickler syndrome. Stickler syndrome, type I. Stickler syndrome, type II ...
http://www.medicinenet.com/htmlalphaidx/dict_S.htm
www.medicinenet.com
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Stickler syndrome
... and the collagen of the 2-d type is assumed to be the cause of this syndrome. ... Retinal Detachment complications diagnosis Syndrome Vitreous Body 1992 1 1 ...
http://www.ncbi.nlm.nih.gov/pubmed/1635370?dopt=Abstract
www.ncbi.nlm.nih.gov
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OSMED, Heterozygous - Yahoo! Health
Important It is possible that the main title of the report OSMED, ... Stickler Syndrome Support Group. PO Box 371. Walton-on-the-Thames. Surrey, Intl KT12 2YS ...
http://health.yahoo.com/musculoskeletal-resources/osmed-hete...
health.yahoo.com
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Cleft Lip and Palate - Genetics Home Reference
... syndrome. Aarskog-Scott syndrome. oculodentodigital dysplasia. Opitz G/BBB syndrome. Peters plus syndrome ... Stickler syndrome. van der Woude syndrome ...
http://www.ghr.nlm.nih.gov/conditionGroup=cleftlipandpalate
www.ghr.nlm.nih.gov
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Talk:Stickler syndrome - Wikipedia, the free encyclopedia
This is the talk page for discussing improvements to the Stickler syndrome article. ... edit · history · watch · refresh To-do list for Stickler syndrome: ...
http://en.wikipedia.org/wiki/Talk:Stickler_syndrome
en.wikipedia.org
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MedlinePlus Medical Encyclopedia: Hearing loss
Leopard syndrome (multiple lentigines) Otosclerosis. Robinson type ... Multiple lentigines syndrome. Treacher Collins syndrome. Stickler syndrome. Congenital: ...
http://www.nlm.nih.gov/medlineplus/ency/article/003044.htm
www.nlm.nih.gov
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Stickler syndrome: Preparing for your appointment - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of ... Francomano C, et al. Stickler syndrome. In: Cassidy SB, et al. ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=6
www.mayoclinic.com
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Stickler syndrome: Causes - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this ... If you have Stickler syndrome and your partner does not, ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=causes
www.mayoclinic.com
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Hearing loss with craniofacial syndromes - Wikipedia, the free encyclopedia
... loss in Type I Stickler Syndrome is generally mild and is ... Auditory dysfunction in Stickler syndrome". Archives of Otolaryngology 127 (9): 1061?1068. ...
http://en.wikipedia.org/wiki/Hearing_loss_with_craniofacial_syndromes
en.wikipedia.org
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Hearing loss
Stickler syndrome. Taybi oto-palato-digital syndrome. Treacher Collins syndrome. Trisomy 13 ... Waardenburg syndrome. Congenital: Congenital atresia of the ...
http://adam.about.com/encyclopedia/Hearing-loss.htm
adam.about.com
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Stickler syndrome: Lifestyle and home remedies - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this ... Some people with Stickler syndrome are born with a heart ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/D...
www.mayoclinic.com
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Weissenbacher-Zweymüller syndrome - Wikipedia, the free encyclopedia
... may lead to deafness or Stickler syndrome type III (eye problems: myopia, ... type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome
en.wikipedia.org
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Stickler syndrome: Risk factors - MayoClinic.com
Stickler syndrome â?" Comprehensive overview covers symptoms, complications, treatment of this rare ... If you have Stickler syndrome and your partner does not, ...
http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=risk-factors
www.mayoclinic.com
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Clinical and Molecular genetics of Stickler syndrome.
Stickler syndrome is an autosomal dominant disorder with characteristic ... Children with Stickler syndrome typically have a flat midface with depressed ...
http://www.ncbi.nlm.nih.gov/pubmed/10353778
www.ncbi.nlm.nih.gov
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Stickler - Wikipedia, the free encyclopedia
Friedrich Stickler (born 1949), Austrian football official ... A stickler, one who is extremely fussy or particular and insists on neatness. Stickler syndrome ...
http://en.wikipedia.org/wiki/Stickler
en.wikipedia.org
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COL11A2 - collagen, type XI, alpha 2 - Genetics Home Reference
Stickler syndrome - caused by mutations in the COL11A2 gene ... This type of Stickler syndrome is sometimes called the non-ocular type because ...
http://ghr.nlm.nih.gov/gene=col11a2
ghr.nlm.nih.gov
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Buschke-Ollendorff syndrome - Wikipedia, the free encyclopedia
COL1: Osteogenesis imperfecta · Ehlers-Danlos syndrome, types 1,2,&7 ... type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Buschke-Ollendorff_syndrome
en.wikipedia.org
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PMID 11556853
Auditory dysfunction in Stickler syndrome. ... affected individuals from 29 different families segregating Stickler syndrome. ...
http://www.ncbi.nlm.nih.gov/pubmed/11556853
www.ncbi.nlm.nih.gov
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Weissenbacher-Zweymüller syndrome - References - Genetics Home Reference
... J. Weissenbacher-Zweymuller syndrome: long-term follow-up ... syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) ...
http://ghr.nlm.nih.gov/condition=weissenbacherzweymullersyndrome/show/References
ghr.nlm.nih.gov
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Connective Tissue Disorders - Genetics Home Reference
Noonan syndrome. osteogenesis imperfecta. otospondylomegaepiphyseal dysplasia ... Stickler syndrome. Weill-Marchesani syndrome. Weissenbacher-Zweymüller syndrome ...
http://ghr.nlm.nih.gov/conditionGroup=connectivetissuedisorders
ghr.nlm.nih.gov
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Ehlers-Danlos Syndrome, Hypermobility Type -- GeneReviews -- NCBI Bookshelf
Stickler syndrome. ... a few families with features of Stickler syndrome are not linked to any of these ... Stickler syndrome is diagnosed based on clinical features. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=eds3
www.ncbi.nlm.nih.gov
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Pierre Robin syndrome - Wikipedia, the free encyclopedia
... of an underlying disorder or syndrome.[3] The most common is Stickler Syndrome. ... hernia · Omphalocele · Gastroschisis · Prune belly syndrome ...
http://en.wikipedia.org/wiki/Pierre_Robin_syndrome
en.wikipedia.org
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Marfan Syndrome -- GeneReviews -- NCBI Bookshelf
Stickler syndrome is an autosomal dominant connective tissue disorder that can ... The diagnosis of Stickler syndrome is clinically based. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=marfan
www.ncbi.nlm.nih.gov
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VCAN-Related Vitreoretinopathy -- GeneReviews -- NCBI Bookshelf
Stickler syndrome (OMIM 108300, 184840, 604841). Stickler syndrome, or hereditary arthroophthalmopathy, is most often a systemic ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=wagner
www.ncbi.nlm.nih.gov
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Stickler Syndrome - Yahoo! Health
... that offers support and education for persons affected by Stickler syndrome. ... Health Home children Stickler Syndrome. Elsewhere on Yahoo! Health. Exercise ...
http://health.yahoo.com/children-resources/stickler-syndrome...
health.yahoo.com
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Chromosome 6 - Conditions related to genes on chromosome 6 - Genetics ...
Stickler syndrome. succinic semialdehyde dehydrogenase deficiency. vitelliform macular dystrophy. Weissenbacher-Zweymüller syndrome. X-linked sideroblastic anemia ...
http://ghr.nlm.nih.gov/chromosome=6/show/Conditions
ghr.nlm.nih.gov
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604841
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604841
www.ncbi.nlm.nih.gov
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COL11A1 - collagen, type XI, alpha 1 - Genetics Home Reference
Stickler syndrome - caused by mutations in the COL11A1 gene ... Whether Marshall syndrome represents a variant form of Stickler syndrome or a ...
http://ghr.nlm.nih.gov/gene=col11a1
ghr.nlm.nih.gov
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