Stickler Syndrome
Danielle Mercer1, Fern Tsien2, and Barbara Gordon-Wendt1
1 Department of Communication Disorders, LSUHSC School of Allied Health Professions
2 Department of Genetics, LSUHSC School of Medicine
The incidence of Stickler syndrome has been estimated to be 1 in 7,500 to 9,000. Stickler syndrome is a connective tissue disorder that affects vision, hearing, joints, and facial development. There is a particular facial appearance associated with Stickler syndrome because the bones of the face do not develop properly. The middle of the face and nasal bridge typically appear flattened, and some patients have a cleft palate (a hole in the roof of the mouth), which can be corrected by surgery. Breathing and feeding difficulties can result from having a large tongue and small lower jaw. The middle or inner ear can be affected, and so hearing loss can be conductive, sensorineural, or mixed. Hearing loss is usually present at birth and gets worse over time. Stickler syndrome is inherited in an autosomal dominant fashion. Patients with Stickler syndrome may inherit the disorder from an affected parent, or the disorder may be due to a new mutation. There are different types of Stickler syndrome. Not all of the features are seen in each type of Stickler syndrome.
Stickler syndrome major signs and symptoms:
-visual problems, such as:
- severe nearsightedness
- glaucoma
- cataracts
- retinal detachment
-hearing loss
-very flexible joints
-arthritis
-cleft palate
-flattened facial appearance
-large tongue
-small lower jaw
A similar syndrome called Marshall syndrome shares many of the features of Stickler syndrome. Those with Marshall syndrome often have short stature, a trait not commonly seen in Stickler syndrome.
For more information on Stickler syndrome, visit the following links:
http://ghr.nlm.nih.gov/condition/stickler-syndrome
http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler/
For information on support groups for Stickler syndrome, visit the following link:
Child with Stickler Syndrome
From http://drugline.org/medic/term/david-stickler-syndrome/