(a summary by Bill Houchin)
Stickler syndrome is a connective tissue disorder, a genetic malfunction in the tissue that connects bones, eyes, and ears. This disorder is associated with problems of vision, hearing, bone & joint, facial and cleft palate.
Stickler syndrome received its name from Dr. G. B. Stickler, who first studied and documented the syndrome. The term “syndrome” is derived from the Greek work “syn” meaning “together with” and the Greek word “drome” meaning “to run”. A syndrome is a collection of specific symptoms, all with one cause.
Dr. Stickler first studied this syndrome at Mayo Clinic in 1965. His paper titled “Hereditary Progressive Arthro-Ophthalmopathy” associated the severe sight deterioration with joint changes. Other doctors continued the study and have redefined Stickler syndrome to how we know it today.
There are several sight problems that may occur to Stickler patients. Common problems include near sightedness, astigmatism, and cataracts, which can be treated with glasses or surgery. More serious problems include the gel which fills the eye deteriorating, the retina deteriorating, eyes moving independent of each other, and glaucoma. Any of these serious problems can lead to blindness.
The hearing loss suffered by those who are affected will affect either the middle or inner ear. Deafness can result in the extreme cases.
Bone and joint problems consist of arthritis, abnormality to ends of long bones, vertebrae abnormality, curvature of the spine, hunchback, joint pain, knock knee, and double jointed. These will tend to worsen with age.
Several facial features are common with Sticklers syndrome. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities are possible, all in varying degrees. 30-40% of patients with Pierre Robin sequence have Stickler syndrome.
Patients usually do not have all symptoms that can be attributed to Stickler syndrome. As an example, a patient may only have joint problems, another person will have sight and arthritis problems, and members of the same family may have different symptoms. Some patients may have multiple symptoms, but only one problem is severe enough to be diagnosed.
Stickler is believed to be the most common syndrome in the United States and Europe, but one of the rarest to be diagnosed. Most sufferers have such minor symptoms that they do not seek a diagnoses. Those who become patients are generally not correctly diagnosed. One study found a 53% error in original diagnosis of patients found in retrospect to have Stickler. A lot of patients are only diagnosed with one symptom and called, for example, arthritic or near-sighted. It is estimated that 1 in 10,000 people have Stickler Syndrome and only a fraction of them know it.
- Arch Opthalmol 1992;.110, 11: 1589-93
- Am J Ophthalmol 1990; 110: 143-48
- Arch Opthalmol 1992; 110, 11: 1589-93
- Am J Hum Genet 1989; 45: 681-88
- J Rheumatology 1992; 19: 1271-5
- J Med Genet 1989; 26: 119-26
- HEARING DEFECTS:
- J Am Acad Audiol 1990; 1,1; 37-40
- Smith’s Recog Patrns Hum Malfortn 1988: 242
- MONTEFIORE STUDY:
- Birth Defects: Original Article Series; 21, 2: 85-92
- ORIGINAL STUDY:
- Mayo Clinic Proceedings 1965; 40, 6: 454-5
- Stickler Syndrome Layperson Information Brochure