Stickler Syndrome was discovered by Dr. Gunnar B. Stickler in 1965. It was originally called “Hereditary progressive Arthroophthalmopathy.” This Syndrome is connective tissue throughout the body and affects the joints and the eyes. It’s caused by a mutation in the type two pro-collagen (COL2A1) genes. The mutations cause abnormalities in the formation of connective tissues. Stickler Syndrome occurs at a younger age in people.

Inheritance: Stickler Syndrome has an Autosomal Dominant pattern in the (COL2AL , COL11A1 , COL11A2) genes. There is a 50% chance of passing the mutation on to each child. There is no family history of the disease. The individual is the first one to have the mutation in the family. Sometimes children can be affected from one parent by a mutated gene. Stickler Syndrome can also have an Autosomal Recessive pattern in the (COL9A1) gene. Both copies of the gene in each cell have mutations. Each parent carries one type of the mutated gene. Stickler Syndrome carriers typically don’t show signs or symptoms of the condition.

- Born with a cluster of birth affects that make breathing and feeding hard
- Called Pierre Robin sequence
- Cleft palate , small jaw , tongue that falls back toward throat
- Server nearsightedness , Cataracts , Glaucoma , and Retinal Detachments

Daily Life:

Diagnosis: Stickler Syndrome is diagnosed by examines of child’s face, head, mouth, and joints by a doctor. Sometimes teachers notice students that have hard times seeing the blackboard at school which could be a sign of Stickler Syndrome. Tests will be taken to check eyes and hearing. Genetic tests will also be done to show whether you have a mutation that causes Stickler Syndrome or another disorder with similar problems. Genetic counseling before testing is recommended.

There is no cure for Stickler Syndrome. People that have eye problems should be evaluated and followed on a regular basis by an Ophthalmologist. An evaluation for Cataracts and Glaucoma is recommended. Treatment for adult Arthritis includes pain relief, avoidance of high-impact physical activity, and joint replacement as needed. Infants with Clubfoot deformity should be referred to a Pediatric Orthopedist. Cleft Palate is repaired between nine and twelve months of age by a team of surgeons. Ongoing assessment of speech and language is recommended.

Bill and Pat Houchin have a three day conference every year related to Stickler Syndrome. Also Clinical labs research Stickler Syndrome in Addebrookes Hospital.
Additional Facts:
Stickler Syndrome affects 1 in 7,500 to 9,000 newborns. All ethnic groups are equally likely to be affected with this syndrome. Patients with Stickler Syndrome should avoid contact sports. Also patients may have heart value problems and ear infections.

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