Genetic Disorder

Stickler Syndrome

Aliases:

Hereditary Progressive Arthro-Ophthalmo-Dystrophy 

Heredity Progressive Arthro-Ophthalomathy

Stickler Dysplasia

Where The Name Came From:

Stickler Syndrome came came from Dr. G. B. Stickler, who first studied and document the syndrome.

“Syndrome” is derived from Greek, meaning Stickler Syndrome is a series of symptoms that run together.

Signs/Symptoms:

Eye Problems: Severe nearsightedness, children may experience Cataracts, Glaucoma, and Retinal detachments.

Hearing Difficulties: Varying amounts of hearing loss among patients (usually affects ability to hear high frequencies.)

Bone and Joint Abnormalities: Children may have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as Scoliosis. Can lead to Osteoarthritis at an early age.

Cures:

There is no real “cure” for Stickler Syndrome.

Surgery can correct some physical abnormalities.

Some Over-the-Counter drugs can help with joint pains.

Therapy may be used to increase the ability to speak, move around, hear, and also learn (Special Ed.)

Research/Support Groups:

The Marfan Foundation- Dedicated to finding cures, treatments, and aid to people with genetic disorders that affect the body’s connective tissue.

Stickler Involved People (S.I.P.)- Aid group with immediate attention for anyone who needs help that has Stickler Syndrome. They call themselves the “Sticklers”.