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First described by Dr Gunnar B Stickler in 1965, Stickler syndrome is a connective tissue condition that results in a distinctive facial appearance, eye abnormalities, hearing loss and joint problems including hypermobility. It is caused by mutations of certain genes responsible for the production of collagen. Unlike Col3 and Col5 in EDS, or COL1 in OI, the genes affected in Stickler syndrome are COL2 (accounting for 75% of cases), COL9, and COL11.

There are two COL11 genes that lead to Stickler syndrome: COL11A1 and COL11A2. One important difference between them is that the COL11A2 gene defect does not affect the eye. The syndrome is estimated to be present in 1 per 10,000 of the general population. Like all the other Heritable Disorders of Connective Tissue (HDCT) there are a range of signs and symptoms, and individuals can be affected in different ways.

Some people have no major signs and no problems; some have most or all of them and experience a range of problems from the subtle to the severe. Also like many of the HDCT, Stickler syndrome is most often inherited as an autosomal dominant condition. The exception is the COL9 variant that is inherited in a ‘recessive’ way.   Below are articles providing an overview of the condition, it’s symptoms, diagnosis and management.   To read more about Stickler syndrome please go to:


Diagnostic Criteria


The diagnosis is based on both clinical findings and genetic tests, with Major and Minor. Each finding is given a certain number of points. A diagnosis requires the presence of at least 1 major criterion and 5 points or more in total. Hypermobility is not part of the diagnostic criteria.

Major Criteria (2 points for each criterion)
– Orofacial Cleft palate
– Ocular Characteristic vitreous changes or retinal abnormalities
– Auditory High frequency sensorineural deafness

Minor Criteria 
(1 point for each criterion 1, 2, and 4, & max 2 points within criterion 3)
– Orofacial Malar hypoplasia, broad/flat nose, micro/retrognathia
– Auditory Hypermobile eardrum
– Skeletal Maximum of 2 points out of 3 for: Femoral head disease, slipped epiphysis, (and/or) Radiographic evidence of osteoarthritis below age 40 yrs (and/or) Kypho/scoliosis, spondylolisthesis
– Genetic Affected first degree relative OR presence of COL2A1, COL11A1 or COL11A2 gene mutation

Diagnosic criteria

Signs and Symptoms



  • Short-sightedness (myopia)

  • High risk of detachment of the retina (the light-sensitive layer at the back of the eye)

  • Early onset cataracts (clouding of the lens)

  • Glaucoma (due to high pressure within the eye)

Bones and Joints:

  • Both stiff and hypermobile joints

  • Early onset osteoarthritis (wear and tear arthritis, particularly at the hips)

  • Scoliosis (curvature of the spine)

  • Joint pain

Facial Characteristics:

  • A flat face (flat cheek bones) with a small nose, and

  • Little or no nasal bridge

  • Small upper jaw

  • Small lower jaw


  • Cleft palate (an opening in the roof of the mouth). This may also lead to ear infections

  • High arched palate

  • Bifid uvula

  • Micrognathia (the lower jaw is shorter than normal)

  • These problems may lead to difficulties with speech, swallowing, and breathing.


  • Hearing loss (as with visual impairment, this might for example manifest as learning difficulties (not intelligence) at school etc.

  • Glue ear in childhood caused by cleft palate


  • Mitral valve prolapse

The Pierre Robin Sequence (PRS)


This is a rare trio of cleft palate, retrognathia (small lower jaw leading to an ‘over-bite’), and backward displacement of the tongue. The tongue may be too large for the space formed by the small lower jaw. Its backward displacement can then block the airway. PRS may arise spontaneously (in about 40% of cases) or a consequence of Sticklers syndrome, Foetal Alcohol syndrome and other rare conditions such as Treacher Colins’ syndrome.

signs and symptom


Specialist input


Given the different concerns that can arise, like many of the HDCT a number of specialist health and social care services may become involved in supporting an individual and families. These might include:

  • Audiologists,

  • Cardiologists,

  • ENT surgeons,

  • maxillofacial and craniofacial surgeons,

  • Neonatologists and Paediatricians,

  • Nurses (specialist and school nursing),

  • Nutritionists,

  • Ophthalmologists,

  • Oral surgeons,

  • Orthodontics,

  • Orthopaedics,

  • Occupational therapists,

  • Physiotherapists,

  • Rheumatologists,

  • Social services, and

  • Speech and Language therapists.

Approaches to Care


  • Medical: e.g. pain relief, management of glaucoma,

  • Therapies for speech, and joint and muscle concerns (splints, braces, aids, physiotherapy),

  • Hearing aids,

  • Glasses and contact lenses, and regular eye checks,

  • Feeding aids, particularly critical in new borne and infants prior to any surgical correction to the palate, jaw and airway,

  • Specialist aids and care for protecting breathing / airways,

  • Educational support,

  • Surgery to e.g. eyes, jaw, palate, throat, and joints.


The detail of all the practical and surgical interventions is beyond the scope of this article.

For the vast majority with Stickler syndrome life expectancy is normal and individuals will lead full lives. However the complications described above may manifest and respond to treatment in varied ways such that for some individuals day to day function and ability may be affected in different and potentially life-changing ways.


Article last reviewed: March 2020.

next review due: March 2023

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