Chromosomal and Genetic Conditions
What Is Stickler Syndrome?
Stickler syndrome is a genetic disorder of connective tissue that results in variable problems with vision, hearing and facial and skeletal development.
Connective tissue, made up of collagen, acts like glue or an elastic band and allows muscles to stretch and contract.
A syndrome is a disease or disorder that has more than one identifying feature or symptom. Stickler syndrome often affects the connective tissue of the eye, especially in the vitreous humor (interior of the eyeball), and the epiphysis (ends of the bones that make up the joints).
Dr. G. B. Stickler first described this condition in 1965.
People with Stickler syndrome typically do not have intellectual impairment.
Stickler Syndrome in Children
The cause of Stickler syndrome is a genetic change or mutation in one of three collagen genes (COL2A, COL11A1 and COL11A2). Collagen genes provide instructions for the body to make collagen proteins for the body's connective tissue.
Stickler syndrome is an autosomal dominant condition, meaning only one parent needs to have an abnormal gene for the child to inherit the disease.
A person with Stickler syndrome has a 50% chance for each pregnancy of passing this mutation on to the child.
For some people, the Stickler syndrome gene mutation is inherited from a parent.
For others, no one else in the family has a diagnosis of Stickler syndrome and the condition occurred because of a new change in one of the genes that cause Stickler syndrome.
Genetic testing for mutations in the Stickler syndrome genes is available for only two known genetic causes. Genetic counseling before testing is recommended.
Stickler Syndrome at Seattle Children's
Our craniofacial team is experienced in treating children with cleft palate (an opening in the roof of the mouth) and Pierre Robin sequence (PRS) (cleft palate and very small jaw with a small tongue) due to Stickler syndrome.
Over the past five years, we have treated 81 children with PRS; one-third of these children are diagnosed with Stickler syndrome.