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Stickler Syndrome


In 1965, Dr. Gunnar B. Stickler published a five year study entitled "Hereditary Progressive Arthro-Ophthalmology," associating severe ocular degeneration with degenerative joint changes. Since the 1980's, this condition has been called Stickler Syndrome.

Sticklers is a genetic (in approximately 75% of the cases) connective tissue disorder which can affect the joints, eyes, palate, heart and hearing. It is an autosomal dominant trait, meaning that it can be passed on to both boys and girls from either parent. It only requires one parent to be affected. With each pregnancy, there is a 50% chance that the child will inherit Stickler Syndrome.

Sticklers is an under diagnosed disorder because a patient can be affected in only certain areas. It is possible for other family members to affected differently and even more or less severely. Families are frequently not aware that they have Stickler Syndrome until a child is born with a palate abnormality, has early degenerative joint changes or a retinal detachment.

If a child with PRS doesn't present with symptoms of Sticklers in infancy, they still could show up as the child gets older. Genetic testing is available but is found to be quite expensive and not perfected yet. Continued vigilance in vision, hearing and scoliosis screening needs to be maintained during childhood.

The following is a brief summary of the symptoms as they affect patients in five different areas. The premature degenerative changes in weight bearing joints is one of the most consistent features of Sticklers. The number and severity of symptoms will vary greatly from person to person, within families and with the aging process.

Auditory: Sensor neural hearing loss and a conductive hearing loss is also frequently present in patients with a cleft palate due to fluid in the ear.

Cardiovascular: Mitral Valve Prolapse. The association of MVP with Sticklers is somewhat controversial, but many publications still include it as a possibility.

Ocular: Retinal degeneration, including retinal detachments, holes and slits; cataracts; myopia (nearsightedness), severe or mild; glaucoma; vitreous degeneration.

Musculoskeletal: Bony enlargement of joints; hyper mobility of joints; ankle joint instability; kyphhosis and scoliosis; joint pain and stiffness; arachnodactyly (long and slender fingers); Pectus excavatum (sunken chest); slender tubular bones.

Orofacial: Flat mid-face; flat nasal bridge; long philtrum (area between nose and upper lip); micrognathia (small jaw); epicanthic folds; large and prominent eyes; cleft of hard/soft palate; high arched palate; submucous cleft palate; bifid uvula.

Special thanks to Stickler Involved People for providing this information to us
 

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