Wagner-Stickler Syndrome

Below you will find more information about Wagner-Stickler Syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Wagner-Stickler Syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Wagner-Stickler Syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Wagner-Stickler Syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Wagner-Stickler Syndrome or Srickler Syndrome or David-Stickler syndrome, is a genetic disorder which primarily affect the connective tissue particularly the collagen. It is characterized by distinctive facial appearance, eye abnormalities and loss of hearing and problems in the joint areas.

Diagnosis

Diagnosis includes examination of family history and medical and physical examination. Examination by the opthalmologists, audiologists and rheumatologists are also used to confirm the presence of the syndrome in a person.

Treatment

Treatment includes involvement of medical professionals inasmuch as the syndrome impairs more than one of the senses. It involves treatment of a craniofacial surgeons, ear-nose-throat specialist.

Symptoms and Signs

Symptoms includes flattened facial appearance, the presence of the Pierre Robin Syndrome which inludes the U-shaped or sometimes V-shape cleft palate and enlargement of the tongue that is too big for the space formed by the small lower jaw. It also includes near sightedness or even myopia causing the person to be more prone to glaucoma and retinal detachment. Hearing loss, arthritis and abnormalities in the bone and joints are also manifestation of the syndrome (Nowak CB (1998). "Genetics and hearing loss: a review of Stickler syndrome". J Commun Disord 31 (5): 437-53; 453-4).

Causes

It is primarily a genetic disorder which is hereditary. It is caused by the mutations in the COL11A1, COL11A2 and COL2A1 genes which are involved in the production of type II and type XI collagen. The defective collagen molecules affect the development of the bones and other connective tissues (Liberfarb RM, Levy HP, Rose PS, Wilkin DJ, Davis J, Balog JZ, Griffith AJ, Szymko-Bennett YM, Johnston JJ, Francomano CA, Tsilou E, Rubin BI (2003). "The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1". Genet Med 5 (1): 21-7).

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