Hello, while I would like to take credit for the great explanation of Stickler's Syndrome, I can't. The explanation below is taken from a pamphlet by Stickler Involved People or SIP. My grandfather, mother, sister, all of my birthchildren and grandchildren have Stickler's Syndrome. While one could be upset about the fact that some things in life are different for a person with Stickler's compared to a "normal" person I would like to point out that from my point of view I for one feel very lucky to have Stickler's. Stickler's doesn't kill, because of Stickler's I have a lot of wonderful friends who I consider my family now and I would never have searched for the son I gave up to adoption. So to sound corny behind every cloud is a silver lining. I hope the information below helps you to understand Stickler's Syndrome better and that you will visit the links as they have more information.
This pamphlet was prepared by Stickler Involved People (SIP).
Introduction
Stickler syndrome is a genetic disorder which affects connective tissues, including the joints, eyes, palate, heart, and hearing.
This disorder is characterized by possible vision problems, hearing loss, early arthritis, cleft palate, and heart murmurs.
Because Stickler syndrome is different in each person, it is very difficult to diagnose. All parts of the body do not have to be
affected, for the diagnosis of Stickler Syndrome to be given.
Recent Discoveries
Recent research shows Stickler syndrome to affect the COL2A1 gene mapped to chromosome 12 and the COL11A2 gene
mapped to chromosome 6. Further case and genetic studies are continuing.
History
Stickler syndrome received its name from Dr. G.B. Stickler, at Mayo Clinic, who studied and documented the syndrome in
1965. His paper titled "Hereditary Progressive Arthro-Opthalmopathy" associated the severe sight deterioration with joint
changes. Other doctors continue the study and provide further details on Stickler syndrome.
What to Look For
There are several problems that may occur to Stickler Syndrome patients.
Common vision problems include
near-sightedness, astigmatism and cataracts.
More serious problems include the vitreous gel (which fills the eye) deteriorating,
the retina deteriorating or detaching, and glaucoma.
Hearing loss can affect either the middle or inner ear. It is more common in older patients.
Facial concerns include Pierre - Robin Syndrome, small jaw, or palate abnormalities. Faces may appear to be flat.
Premature osteoarthritis, reduced tension of the muscles, spinal abnormalities, loose joints, and enlarged bone endings (seen
by X-ray) are skeletal problems that can be present.
Mitral valve prolapse, a heart condition, should be tested for.
Stickler syndrome is progressive, and inherited, so we need to be aware of all Stickler Syndrome possibilities.
Links
Stickler's Involved People
Stickler's Syndrome Home Page
Holli's Triumph Over Tragedy *
*Holli has become a third daughter to me. We met because of Stickler's Syndrome. She is one of the greatest blessing Stickler's has given me.