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Stickler Syndrome is a genetic condition inherited in an autosomal dominant manner, which means that a single copy of the altered gene is inherited from one of the parents and is passed on to 50% of the children. Individuals may have any or all of the following: hearing loss, vision loss due to high myopia (extreme nearsightedness), arthritis-like joint disease, and cleft palate. Most also have a characteristic face with flat cheekbones. All are caused by genes affecting collagen, which are fibers in the cartilage of the joints, the jelly like substance that give a round shape to the eyeball (vitreous humor) and supporting structures of the ears and other organs.

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About 1 in 10,000 people have Stickler Syndrome


On the basis of clinical findings either two or three types exist. (Table 1) . Types 1 and 3 have normal or mild hearing loss while type 2 starts with mild loss and progresses to profound loss. Vision loss, on the other hand, is similar for types 1 and 2 but type 3 has no vision loss and is the so-called "non-ocular" form. All can get arthritis-like symptoms and some in each type may have cleft palate.

Table 1: Types of Stickler Syndrome

SymptomType 1Type 2Type 3
HearingNormal or mild lossModerate to profound loss, usually progressiveHigh tone loss, slowing progressing to involve low tones as well
BalanceUsually normal? may be affectedUsually normal
Vision High myopia with vitreous changes +/- high pressure and retinal tearsHigh myopia with vitreous changes +/- high pressure and retinal tearsNormal
JointsYoung people - extremely flexible
Later arthritis-like symptoms
Progressive spine problems lead to back pain
Like type 1About 1/2 have like type 1.
MouthSome with cleft palate or submucous cleft palateSome with cleft palate or submucous cleft palateA few have cleft palate
Gene locationCOL2A1
COL 11A1
COL 11A2

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High Myopia

Myopia is the medical term for near-sightedness.  High myopia means extreme near-sightedness. This means that a person can see print or an object well if it is held near the eyes but things at a greater distance are blurry.  The eyeball is elongated front to back so that lenses are needed to refocus the image on the back of the eye when viewing objects at a distance.  If they don't have glasses on, children (or adults) will bring a book right up to the face and move very close to the TV in order to read or see clear images.


A husband with high myopia was driving with his wife who was far-sighted and had astigmatism.  They needed to decide whether to get off the Interstate at the next exit, but the wife could not read the map because the print was too small.  She handed the map to the husband and put her hand on the wheel.  He took his glasses off, held the map within 6 inches of his eyes, read the fine print, and said, "This is it!"  The wife started making the turn while the husband put on his glasses to complete the exit.  By the way, this kind of navigation is not such a good idea, but you get the point.

Because the eyeball is so long, the back layers of the eye may stretch and tear apart causing further vision loss.  This can be an emergency and sometimes can be put back with laser treatments if caught in time.  The pressure in the eyeball can also increase causing glaucoma.

Hearing Loss Iin Stickler Syndrome

In all types, babies might be born with normal hearing or mild high tone loss.  However, those with type 1 may remain normal while those with type 3 generally have a progressive loss.  In type 2 the loss is usually moderate to profound and is often progressive.

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Balance Iin Stickler Syndrome

In most cases balance is normal.  In those with type 2 and profound loss, balance function due to inner ear (vestibular) involvement may be somewhat abnormal.

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Gene Studies in Stickler Syndrome

Three genes have been identified so far: COL2A1, COL11A1, and COL11A2

All of these genes code for type II procollagen.  This is a precursor to the so-called fibrillar collagens which are a major component of cartilage and vitreous humor, a jelly-like substance inside the eyeball.

More information is available by going to the Genetics Home ReferenceOpen in new window. Link to a different web site..

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Other Related Conditions

Marshall syndrome is similar to Stickler except that affected individuals have flattening not only of the cheekbones but also the nose and the bones around the eyes.  The eyes appear quite prominent as a result.  People with this condition may also have changes in COL11A1.

Several short stature conditions are caused by COL2A1.  These include achondrogenesis type 2, hypochondrogenesis, Kniest dysplasia and spondyloepimetaphyseal dysplasia, Strudwick type.

Two short-stature conditions are also caused by COL11A2 changes.  These are OSMED (otospondylomegaepiphyseal dysplasia and Weissenbacher-Zweymüller syndrome.)

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Stickler Involved People
15 Angelina Drive
Augusta, KS 67010 USA
Phone: 316-259-5194
E-Mail: in new window. Link to a different web site.

Genetic evaluation

Most medical schools have a clinical genetics division, which may be part of the department of pediatrics, internal medicine or obstetrics/gynecology. Your doctor should be able to locate the nearest geneticist or call:

American College of Medical Genetics  (ACMG)
9650 Rockville
Pike Bethesda, MD 20814-3998
Telephone 301-530-7127
Fax 301-571-0677


Note that any degree of hearing loss combined with any degree of vision loss which interferes with communication and acquiring information is considered DeafBlind even though a person may still have some useful vision and hearing.

The Helen Keller National Center (Ask for the Helen Keller representative or affiliate in your region)
111 Middle Neck Road

Sands Point, NY 11050
Telephone (516) 944-8900
Voice & TTY (516) 944-7302 in new window. Link to a different web site.

The National Information Clearinghouse on Children Who are Deaf-Blind at DB-Link Teaching Research Western Oregon University
345 N. Monmouth Ave
Monmouth, OR 97361
Telephone (800) 438-9376
Voice & TTY (800) 854-7013
http://nationaldb.orgOpen in new window. Link to a different web site.

Prepared by   Sandra L.H. Davenport, M.D.
Sensory Genetics/Neuro-development

5801 Southwood Drive
Bloomington, MN 55437-1739
Voice & TTY (952) 831-5522
FAX (952) 831-0381

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