STICKLER SYNDROME By: Brooke Bonfiglio

HISTORY OF STICKLER SYNDROME

Discovered by Dr. Gunnar B. Stickler in 1965 named, “hereditary progressive arthro-ophthalmopathy”, now known as Stickler Syndrome

Studied a family with 5 generations of notably similar symptoms, first noticed by Dr. Charles Mayo in 1887

SYMPTOMS OF STICKLER SYNDROME

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems.

FACIAL APPEARANCE

Flattened Facial Appearance Lack of bones on the bridge of the bones and

cheekbones Robin Sequence: can lead to feeding and

breathing problems Cleft Palate Large tongue Small lower jaw

EYE SYMPTOMS Myopia: extreme near sightedness Glaucoma: increased pressure in the eye Cataracts: Clouding of the lends of the eye Retinal Detachment: tearing of the lining of

the eye All of these attribute to impaired vision and

in some cases blindness

HEARING/JOINT SYMPTOMS Hearing loss occurs- varies in degree

according to individual, can worsen over time Joints

Hypermobile: overly flexible, become less flexible with age

Early onset of arthritis Often scoliosis or platypondyl (flattened

vertebrae) in bones of spine- very painful

CAUSES OF STICKLER SYNDROME

Mutations in the COL2A1(75% of stickler cases), COL11A1, COL11A2(non-ocular), COL9A1(recessive variant), and COL9A2 genes cause Stickler syndrome types I through V, respectivelyThese genes are involved in production of

collagen, type II, type IX, and type XI, which are the components of connective tissue

Mutations in the collagen disrupt the development of connective tissues, leading to the characteristic features of Stickler syndrome.

INHERITANCE OF STICKLER SYNDROME

1 in 7,500-9,000 are affected by Stickler Syndrome

Types I, II, and III Stickler syndrome (caused by mutations in the COL2A1, COL11A1, and COL11A2 genes) are inherited in an autosomal dominant pattern

Types IV and V Stickler syndrome (resulting from mutations in the COL9A1 or COL9A2 gene) are inherited in an autosomal recessive pattern.

Gene Tests Can be done to verify if a person has the disease or is a carrier of the gene

PROBABILITY OF INHERITANCE

TREATMENTS FOR STICKLER SYNDROME No Cure, however surgeries can help correct

some physical abnormalities of Stickler Syndrome

Vision and hearing exams should also be carried out to asses the degree of the disease

Glaucoma drugs. Children who have glaucoma will need to take daily medications to control the pressure within their eyes. Most of these types of medications come in the form of eye drops.Tracheostomy

surgery

BIBLIOGRAPHY

"Information on the Condition." Www.stickler.org/uk/info.com. N.p., n.d. Web. 24 Feb. 2013.

"Stickler Syndrome." Genetics Home Reference. N.p., n.d. Web. 23 Feb. 2013.

"Stickler Syndrome." Boston's Childrens Hospital. N.p., n.d. Web. 23 Feb. 2013.