Stickler syndrome type 1

Title

Other Names:

Stickler syndrome, vitreous type 1; STL1; Stickler syndrome, membranous vitreous type; Stickler syndrome, vitreous type 1; STL1; Stickler syndrome, membranous vitreous type; Arthroophthalmopathy, hereditary progressive; AOM See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Eye diseases; Mouth Diseases; Musculoskeletal Diseases See More

This disease is grouped under:

Stickler syndrome

Summary Summary

Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The symptoms of Stickler syndrome may vary but include near-sightedness (myopia), retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age.^[1]

Stickler syndrome is caused by genetic changes (mutations or pathogenic variants) in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome. Genetic testing can be used to confirm the diagnosis. Treatment for Stickler syndrome may include surgeries, medications to reduce joint pain, and hearing aids.^[1]

Stickler syndrome can be divided into subtypes based on the pathogenic variant that is causing the syndrome. You can view more information about some of these subtypes by clicking on the links below:

Last updated: 3/1/2018

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal vitreous humor morphology		0004327
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Hypoplasia of the maxilla	Decreased size of maxilla Decreased size of upper jaw Maxillary deficiency Maxillary retrusion Small maxilla Small upper jaw Small upper jaw bones Upper jaw deficiency Upper jaw retrusion [ more ]	0000327
Long philtrum		0000343
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Retinal detachment	Detached retina	0000541
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Skeletal dysplasia		0002652
30%-79% of people have these symptoms
Abnormality of vertebral epiphysis morphology	Abnormal shape of the end part of the vertebra bone	0100734
Arthralgia	Joint pain	0002829
Cleft palate		0000175
Joint hyperflexibility		0005692
Mitral valve prolapse		0001634
Osteoarthritis	Degenerative joint disease	0002758
Platyspondyly	Flattened vertebrae	0000926
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Sensorineural hearing impairment		0000407
5%-29% of people have these symptoms
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Visual loss	Loss of vision Vision loss [ more ]	0000572
Percent of people who have these symptoms is not available through HPO
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Arachnodactyly	Long slender fingers Spider slender fingers [ more ]	0001166
Arthropathy		0003040
Autosomal dominant inheritance		0000006
Beaking of vertebral bodies		0004568
Blindness		0000618
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Disproportionate tall stature		0001519
Glaucoma		0000501
Irregular femoral epiphysis	Irregular thighbone end part	0006361
Kyphosis	Hunched back Round back [ more ]	0002808
Malar flattening	Zygomatic flattening	0000272
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Pectus excavatum	Funnel chest	0000767
Pierre-Robin sequence		0000201
Scoliosis	Abnormal curving of the spine	0002650
Spondyloepiphyseal dysplasia		0002655

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cleft Palate Foundation
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Toll-free: 800-242-5338
Telephone: 919-933-9044
Fax: 919-933-9604
E-mail: info@cleftline.org
Website: http://www.cleftline.org/
National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 800-8-MARFAN (800-862-7326)
Telephone: 516-883-8712
Fax: 516-883-8040
E-mail: staff@marfan.org
Website: http://www.marfan.org
Stickler Involved People
15 Angelina
Augusta, KS 67010
Telephone: 316-259-5194
E-mail: sip@sticklers.org
Website: http://www.sticklers.org
Stickler Syndrome Support Group (SSSG)
PO Box 3351
Littlehampton West Sussex, BN16 9GB United Kingdom
Telephone: 01903 785771
E-mail: info@stickler.org.uk
Website: www.stickler.org.uk

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Stickler syndrome type 1. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Stickler syndrome type 1. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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