Madisons Foundation - Moms And Dads In Search Of Needed Support
Monday, 21 July 2003
Thursday, 05 February 2004
Hereditary Progressive Ophthalmopathy
Stickler Syndrome is a hereditary disorder of the connective tissues that can affect the eye, bones and joints, inner ear, and the bones of the skull and face. Connective tissue is found all throughout the body and supports organs, allows stretching and tightening of muscles, and is an important part of our joints. Collagen is an important part of connective tissue. In the eye collagen is found in the whites of the eyes, cornea (clear layer of the eye that light enters first), and vitreous humor (liquid in the eye behind the cornea). Collagen is also found in the cartilage that covers the end of bones in joints and in the heart.
Stickler Syndrome occurs in 1-3 of every 10,000 people.
Signs and Symptoms
A person with Stickler Syndrome may have the following symptoms*:
1. Short-sightedness (myopia)
2. Retinal detachments
3. Cataracts (cloudy eyes)
4. Glaucoma (increased pressure in the eye)
5. Stiff or over-flexible joints
6. Early joint disease
7. Cleft palate (roof of the mouth is not properly connected)
8. Short lower-jaw (micrognathia)
9. Flat face with small nose and nasal bridge
10. Possible hearing loss
11. Glue ear in childhood (caused by cleft-palate)
12. Curved spine (scoliosis)
13. Mitral Valve Prolapse (heart disorder)
Stickler Syndrome results when there is a mistake in genes that tell the body how to make collagen. This genetic mistake is passed from parent to child with the child having a 50% chance of being born with the syndrome. Only one parent with the genetic mistake is needed to cause the condition and this pattern of transmission is called autosomal dominant. Occasionally Stickler Syndrome can occur in a child with no family history of the disease. There are three types of Stickler Syndrome: Type 1 results from a mistake on a gene called COL2A1. This gene is responsible for 75% of Stickler Syndrome cases. Type 2 results from a mistake on the COL11A1 gene. Type 3 results from a mistake on COL11A2 gene and causes “Stickler-like” symptoms. Because not all people with Stickler Syndrome have mistakes on these genes, it is thought that mistakes on other genes may also cause it. Parents are unaware of the genes that make these mistakes, and should not feel that there is something they did or did not do to cause this condition in their child.
Stickler Syndrome can be diagnosed based on the presence of two or more of the above symptoms and DNA testing that is positive for errors on the COL2A1, COL11A1, and COL11A2 genes. The symptoms of Stickler Syndrome may vary among family members, therefore, when one family member is identified as having the condition, genetic counseling and testing should be conducted within the family to help those who are at-risk.
The symptoms of Stickler Syndrome can be managed with medical care by a variety of medical professionals who specialize in the eye, heart, bones and joints, and the ear. Symptoms should be treated as they occur. For example, surgery may be conducted to correct retinal detachment of the eye, cleft-palate in the mouth, and mitral valve prolapse of the heart. In addition, anti-inflammatory medications can be given to treat joint pain.
Stickler Syndrome may cause physical limitations such as hearing loss, vision problems, breathing problems and others. With regular medical care, and support services however, a person with this condition will have a normal life expectancy, with adjustment to and management of the limitations.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
Stickler Syndrome Support Group
UK-based organization that provides information on Stickler Syndrome and newsletters for members. There are also links to other useful sites.
Stickler Involved People
A great site for medical information as well as information on available support, networking, updates about Stickler Syndrome and national conference.
Neonatology on the Web
Outline-style information about Pierre-Robin Sequence for medical professionals.