Wagner-Stickler Syndrome
Wagner-Stickler Syndrome 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).
Wagner-Stickler Syndrome 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.
Wagner-Stickler Syndrome 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.
Wagner-Stickler Syndrome 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).
Wagner-Stickler Syndrome 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.