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Condition report · Musculoskeletal

Stickler Syndrome

Whole genome sequencing reads COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3, the collagen genes most often linked to Stickler syndrome.

A condition report looks for rare variants known to cause the conditions it covers.

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About this condition

A group of connective tissue conditions that affect the eyes, ears, joints and face, with high myopia and retinal detachment as the main eye features. This report covers COL2A1, COL11A1, COL11A2, COL9A1, COL9A2 and COL9A3.

Stickler syndrome is a connective tissue disorder, meaning it affects the tissues that hold the body together. It can affect the eyes, ears, joints, face and palate. The eyes are usually the most important area, with high myopia (short-sightedness) and retinal detachment, where the light-sensitive layer at the back of the eye lifts away from the tissue beneath it. Stickler syndrome is the most common cause of retinal detachment in children. Its prevalence at birth has been estimated at 1 in 7,500 to 1 in 10,000.

Most cases are caused by a change in one copy of COL2A1, COL11A1 or COL11A2. These are inherited in a dominant way, so a person with a change has a 50% chance of passing it to each child. Changes in COL9A1, COL9A2 or COL9A3 are rarer and are inherited in a recessive way, so a person needs a change from each parent.

The gene involved matters for what to expect. Type 2 (COL11A1) carries a lower risk of retinal detachment than type 1 (COL2A1), and some COL11A2 changes cause the condition without any eye involvement. Regular eye examinations and hearing tests are the main ways to look after health. Once a family change is known, relatives who may be at risk can be tested.

The 7 conditions we analyse

Stickler Syndrome Type 1

Autosomal dominant

Caused by a change in one copy of COL2A1, the gene for type II collagen, a protein that gives structure to connective tissue. Most changes are expected to cause disease by reducing the working protein made from the gene, so one changed copy is enough.

Signs and symptoms

High myopia (short-sightedness) that is present from birth and does not get worse over time, along with vitreous changes, is typical. Retinal detachment is the main sight risk, affecting 47% of people with COL2A1 changes in a pooled analysis, and the first detachment usually happens in the second decade of life. About half of people have mild, high-frequency hearing loss. A flat midface, cleft palate or Pierre Robin sequence (a small lower jaw), joint hypermobility and osteoarthritis from the third or fourth decade are also common.

What a diagnosis changes

Standard care includes yearly eye examinations by a retinal specialist, yearly hearing tests and glasses for myopia. Laser treatment to the retina can help prevent detachment, and people are taught the warning signs. Relatives at risk can be checked to see who needs monitoring.

Genes analysed

Also known as

Stickler syndrome, type I; STL1

Specific forms also covered

  • Stickler Syndrome Type 1, Nonsyndromic Ocular

    Autosomal dominant

    Caused by a change in one copy of COL2A1, the same gene as Stickler Syndrome Type 1. In some families the changes lead mainly to eye problems, with retinal detachment and few or no features outside the eye.

    COL2A1

Includes 1 related subtype ↓
  • Stickler syndrome, type I, nonsyndromic ocular
MONDO:0007160OMIM 108300Orphanet 90653MedGen 810955Sources: [1][11][4][3][2][9]

Stickler Syndrome Type 2

Autosomal dominant

Caused by a change in one copy of COL11A1, a collagen gene. Most changes are thought to produce an abnormal protein that interferes with the normal one.

Signs and symptoms

Myopia is usually more severe than in type 1. Cataract is more common, in 59% of people compared with 36% in type 1. Retinal detachment occurred in 28% of people with COL11A1 changes in a pooled analysis, which is less often than in type 1. Hearing loss is more frequent than in type 1, is moderate and affects all pitches.

What a diagnosis changes

Yearly eye examinations are needed, and prophylactic treatment to the retina lowered the risk of detachment in one type 2 cohort. Hearing tests are also needed, as hearing loss is common. Relatives at risk can be tested once the family change is known.

Genes analysed

Also known as

COL11A1 Stickler syndrome; Stickler syndrome caused by mutation in COL11A1; Stickler syndrome type II; STL 2; STL2

MONDO:0011493OMIM 604841Orphanet 90654MedGen 347615Sources: [5][9][4][3][2][1]

Stickler Syndrome Type 3 (Non-Ocular)

Autosomal dominant

Caused by a change in one copy of COL11A2, the gene for the alpha2 chain of type XI collagen. Some changes cause Stickler syndrome without any eye involvement.

Signs and symptoms

Stickler syndrome without eye involvement: the eyes are not affected, but hearing loss, joint and facial features occur. Hearing loss is common, is moderate and affects all frequencies. A separate recessive condition, otospondylomegaepiphyseal dysplasia, is caused by changes in both copies of COL11A2.

What a diagnosis changes

Hearing tests and treatment as needed, with orthopaedic review for joint or bone problems. Testing relatives at risk shows who needs monitoring.

Genes analysed

Also known as

COL11A2 Stickler syndrome; heterozygous OSMED; heterozygous otospondylomegaepiphyseal dysplasia; OSMEDA; Pierre Robin sequence-fetal chondrodysplasia syndrome; Pierre Robin syndrome with fetal chondrodysplasia; Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type; Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly; Pierre Robin syndrome with foetal chondrodysplasia; Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type; Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly; Pierre Robin syndrome-fetal chondrodysplasia syndrome; Stickler syndrome caused by mutation in COL11A2; Stickler syndrome nonocular type; Stickler syndrome, non-ocular type; Stickler syndrome, type 3; STICKLER syndrome, type III; Stickler syndrome, type III, formerly; STL3; Weissenbacher-Zweymuller syndrome; Weissenbacher-Zweymüller syndrome; WZS

MONDO:0008490OMIM 184840OMIM 277610Orphanet 166100Orphanet 3450MedGen 341234Sources: [13][2][14][1]

Stickler Syndrome Type 4

Autosomal recessive

Caused by two changes in COL9A1, one from each parent, which makes type IX collagen. Parents are usually unaffected carriers of one change each.

Signs and symptoms

High myopia is near-universal in recessive Stickler syndrome, and hearing loss is very common with type IX changes. The hearing loss is usually moderate to severe and slopes downwards in pitch. Retinal detachment occurred in 15% of people in one cohort of type IX recessive cases. Cleft palate has not been reported with type IX changes.

What a diagnosis changes

Yearly eye examinations with a retinal specialist and hearing tests, with treatment as needed. Retinal treatment to prevent detachment is considered case by case in type IX recessive disease. Once the family change is known, relatives can be tested.

Genes analysed

Also known as

autosomal recessive Stickler syndrome caused by mutation in COL9A1; COL9A1 autosomal recessive Stickler syndrome; STICKLER syndrome, type IV; STL4

MONDO:0013590OMIM 614134MedGen 481571Sources: [7][15][1][2]

Stickler Syndrome Type 5

Autosomal recessive

Caused by two changes in COL9A2, one from each parent, which makes type IX collagen. Only a few families have been reported.

Signs and symptoms

In a family reported in 2021, both brothers had high myopia, vitreous changes and severe hearing loss that slopes downwards in pitch. One brother had retinal detachment and cataract in one eye. Midface and joint features were mild.

What a diagnosis changes

Eye checks with a retinal specialist and hearing assessment, as for other recessive types. Once the family change is known, relatives can be tested to see who needs monitoring.

Genes analysed

Also known as

autosomal recessive Stickler syndrome caused by mutation in COL9A2; COL9A2 autosomal recessive Stickler syndrome; STICKLER syndrome, type V; STL5

MONDO:0013666OMIM 614284MedGen 481972Sources: [16][7][1]

Stickler Syndrome Type 6

Autosomal recessive

Caused by two changes in COL9A3, usually one from each parent, which makes type IX collagen. Compound heterozygous and homozygous changes have both been reported.

Signs and symptoms

Reviews of recessive Stickler syndrome describe high myopia and sensorineural hearing loss as the main features. Across recessive cases reviewed, retinal detachment occurred in 18% and joint pain in 15%. Cleft palate has not been reported with type IX changes.

What a diagnosis changes

Eye checks with a retinal specialist and hearing tests, as in the other recessive types. Relatives can be tested once the family's changes are known.

Genes analysed

Also known as

Stickler syndrome, type VI; STL6

MONDO:0031047OMIM 620022MedGen 1823980Sources: [17][18][7][1]

Why whole genome sequencing

Stickler syndrome can come from several genes, and the gene involved changes the eye risk and how the condition is passed on.

The gene affects the eye risk

In a pooled analysis, retinal detachment occurred in 47% of people with COL2A1 changes and 28% of people with COL11A1 changes. Some COL11A2 changes cause Stickler syndrome without any eye involvement.

Inheritance differs between genes

Changes in COL2A1, COL11A1 and COL11A2 are dominant, so one changed copy can cause the condition. Changes in COL9A1, COL9A2 and COL9A3 are recessive and need a change from each parent.

Monitoring can help protect sight

Retinal detachment is a serious risk, and treatment to the retina can lower it. In a study of type 2, detachments came sooner in people who did not have this treatment, so knowing the gene helps a specialist plan checks.

Limitations

  • Stickler syndrome can also be caused by changes in other genes, such as LRP2, LOXL3 and GZF1, which this report does not cover.
  • A negative result does not rule out Stickler syndrome: in a review of collagen gene panel testing, a cause was found in about half of people tested for it.
  • Single-copy changes in COL9A3 have been reported to cause retinal detachment in some families. Those are not part of the recessive Stickler Syndrome Type 6 entry.

References

  1. Mortier G, 2000. Stickler Syndrome
  2. Acke FRE, De Leenheer EMR, 2022. Hearing Loss in Stickler Syndrome: An Update
  3. Boysen KB, La Cour M, Kessel L, 2020. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review
  4. Carpenter CM, MacLachlan AG, Kwun CY, Johnson TJ, Baugh BT, Requejo Figueroa GA et al., 2026. Relative Risk of Retinal Detachment in COL2A1 Compared with COL11A1 Stickler Syndrome: An Individual Patient Data Meta-Analysis
  5. Fleet A, Hrishikesh K, Collins D, Fincham GS, Martin H, Richards AJ et al., 2026. Prevention of Retinal Detachment in Type 2 Stickler Syndrome
  6. Britten-Jones AC, Dawkins RCH, Bucknor B, Ting YL, Ayton LN, 2026. Diagnostic genetic testing indications and findings in type II, IX and XI collagenopathies
  7. Nixon TRW, Richards AJ, Martin H, Alexander P, Snead MP, 2022. Autosomal Recessive Stickler Syndrome
  8. Bremond-Gignac D, Daruich-Matet A, Marchione G, Pâques M, Chiambaretta F, Meur L et al., 2026. [National Protocol for the Diagnosis and Management of Stickler syndrome: Summary for the attending physician]
  9. Drackley A, Ralay Ranaivo H, Allegretti V, Ing AY, Rahmani S, Blair MP et al., 2025. Ophthalmic Manifestations in a Diverse Pediatric Population with Type I and Type II Stickler Syndrome
  10. Nash BM, Watson CJG, Hughes E, Hou AL, Loi TH, Bennetts B et al., 2021. Heterozygous COL9A3 variants cause severe peripheral vitreoretinal degeneration and retinal detachment
  11. Snead MP, Yates JR, 1999. Clinical and Molecular genetics of Stickler syndrome
  12. Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB, 2003. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene
  13. Sirko-Osadsa DA, Murray MA, Scott JA, Lavery MA, Warman ML, Robin NH, 1998. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen
  14. Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H et al., 2000. Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene
  15. Maghsoudi D, Nixon TR, Martin H, Richards AJ, McNinch AM, Alexander P et al., 2025. Retinal detachment in Type IX collagen recessive Stickler syndrome
  16. Kjellström U, Martell S, Brobeck C, Andréasson S, 2021. Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
  17. Markova T, Sparber P, Borovikov A, Nagornova T, Dadali E, 2021. Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
  18. Rad A, Najafi M, Suri F, Abedini S, Loum S, Karimiani EG et al., 2022. Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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