Transcript Stickler Syndrome

Stickler Syndrome
By Leah Luce
History
 Introduced to the medical community in 1965
 Originally described by pediatrician Gunnar B.
Strickler as hereditary progressive arthroophthalmopathy
 Affects the body’s collagen
Symptoms












Nearsightedness
Cataracts (clouding of the eye lens)
Astigmatism (cornea or lens not spherical)
Crossed eyes
Glaucoma (elevated eye pressure)
Inner ear hearing loss
Frequent ear infections
Joint pain/enlarged joints
Osteoarthritis
Loose joints that are abnormally flexible
Scoliosis
Palate abnormalities
Symptoms Cont.






Hip degeneration
Flat cheeks and nasal bridge
Small jaw
Split uvula
Orthodontic Issues
Pierre-Robin sequence (small jaw, cleft palate, tongue
placement abnormalities and breathing and feeding
problems)
Inheritance
 Caused by mutations in specific genes
 Types I, II, and III (COL2A1, COL11A1 and COL11A2) are
inherited in an autosomal dominant pattern
 In some cases an affected person inherits a gene
mutation from one affected parent
 Some cases result from new mutations
Inheritance Cont.
 Types IV and V (COL9A2 or COL9A1) are inherited in an
autosomal recessive pattern (both copies of the gene
in each cell have mutations)
Frequency
 1 in 7,500 to 9,000 newborns
Effected Groups
 Both sexes are effected
 Usually detected in infants or in early childhood
Age of Onset
 Can be detected at birth depending on the symptoms
 Many times it isn’t detected until after the age of 4
 In most cases it isn’t discovered until early adulthood
or never discovered at all
Prognosis
 There is no cure for Stickler Syndrome
 The prognosis is moderate
 Difficult breathing or feeding: affects prognosis considerably and
needs special care
 Blindness: glaucoma left untreated or in case of detachment of
the retina isn’t repaired, the child could become blind
 Ear defects: infections of the ear are common complications
 Heart ailments: risks of developing heart valve defects
 Dental problems
Treatments














Non steroidal anti inflammatory drugs
Glaucoma drugs
Corrective lenses
Hearing aids
Speech therapy
Special education
Physical therapy
Tracheostomy
Jaw surgery
Repair of the cleft palate
Surgery for ear tubes
Eye surgery
Joint replacement
Educational help
Recent Progress
 New therapeutics
 Creation of molecular diagnostic tests
 Improvements in knowledge of the development and
physiology of the ear
 Improvements in genetic counseling
Works Cited




http://ghr.nlm.nih.gov/condition/stickler-syndrome
http://www.ncbi.nlm.nih.gov/books/NBK1302/
http://www.dbproject.mn.org/sticklersyndrome.html
http://www.stickler.org.uk/info.htm