What is Stickler Syndrome?

Sturge-Weber Syndrome (SWS) (encephelotrigeminal angiomatosis) is characterized by a congenital facial birthmark and neurological abnormalities.  Approximately 1 in 20,000 children are born with SWS.  Although manifestations vary widely with  individual cases, characteristics include:
 

•     Port Wine Birthmark (PWB) (capillary malformation)

•     Eye irregularities (bulging appearance, watering, cloudy, enlarged)

•     Endocrine irregularities

•     Organ irregularities

•     Developmental disabilities

•     Seizures

•     Glaucoma (excess intraocular pressure)

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Why did this happen?

SWS is a congenital, non-familial disorder caused by the GNAQ gene mutation.

Will this happen to children I have in the future?
SWS almost never affects two members of the same family. There is no genetic pattern, and the condition affects races and sexes equally.

What kinds of problems could my child have?

Seizures may occur at any time, but most often begin before age five. They affect 72% of SWS patients with unilateral brain lesions and 93% of patients with bihemispheric involvement. Glaucoma affects 30% of SWS patients.

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Will my child need surgery or other treatments?
Depending on the severity of the SWS, your child may need some or all of the following surgeries:
 

• Eyes:  Newborns with PWB affecting the eyelids and/or brain involvement need to be seen by an ophthalmologist in the first weeks after birth and then periodically throughout life. If glaucoma occurs, medications are required to lower intraocular pressure.
   

• Port Wine Birthmark:  Vascular specific laser treatment may lighten the appearance, and complete resolution is sometimes, but not always, possible. The earlier treatments begin, the more effective they are. Topical or general anesthesia may be required.
   

• Seizures:  If a child has a seizure, consultation with a neurologist should begin. Tests for possible contributing factors should include blood glucose, electrolytes, serum calcium and magnesium, and complete blood count. Imaging should include EEG, CT, and MRI.  Aggressive anti epileptic treatment should commence.
   

• Brain irregularities:  Vascular malformations called angiomas may cause progressive problems due to hypoxia (reduced oxygen) to brain tissues. These problems can include seizures, calcifications, atrophy, headaches, migraines, and cerebrovascular accidents (strokes).

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How do I get help for my child?

Your child should be treated by a qualified craniofacial medical team at a craniofacial center. Currently, FACES has information on many of these teams. This is by no means a comprehensive list of all the craniofacial teams.
Please Contact Us for details.

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Am I alone?
No! There are many families and organizations who will be glad to talk with you and help you with information and support. Don't forget books, videos, and websites. The information below will help you get started. (Facebook has dozens of private groups specific to conditions. Try searching Facebook with a few different key words such as "craniofacial" or "burn" and find groups of parents and others with similar differences.)

 

FACES: The National Craniofacial Association

We provide financial support for non-medical expenses to patients traveling to a craniofacial center for treatment. Eligibility is based on financial and medical need (Apply Here). Resources include newsletters, information about craniofacial conditions, and networking opportunities. Contact Us for more information.

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Office of Rare Diseases

The Genetic and Rare Diseases Information Center

Excellent web site for finding information on a variety of craniofacial disorders, particularly very rare ones. Information specialists are available to answer your questions. Telephone operation is Monday - Friday, 12 pm to 6 pm Eastern Time. Email or fax requests for information will be answered within 5-10 working days. U.S. Mail requests will be answered within 5-10 working days. NOTE: The center does not give medical advice, provide treatment, or diagnose illness.
Phone: (888) 205-2311
Website: rarediseases.info.nih.gov/diseases/10782/stickler-syndrome

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US National Library of Medicine

Your guide to understanding genetic conditions

Website: ghr.nlm.nih.gov/condition/stickler-syndrome

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This US National Library of Medicine site answers many of the genetic questions regarding Stickler Syndrome.

 

Website: ghr.nlm.nih.gov/condition/stickler-syndrome

National Health Law Program

Provides extensive information on health care law affecting families with children who have special health care needs.
Phone: (202) 289-7661
Website: healthlaw.org/

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Additional Resources

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