In 1965, Dr. Gunnar B. Stickler published a five year study entitled
"Hereditary Progressive Arthro-Ophthalmology," associating severe ocular
degeneration with degenerative joint changes. Since the 1980's, this
condition has been called Stickler Syndrome.
Sticklers is a genetic (in approximately 75% of the cases) connective
tissue disorder which can affect the joints, eyes, palate, heart and
hearing. It is an autosomal dominant trait, meaning that it can be
passed on to both boys and girls from either parent. It only requires
one parent to be affected. With each pregnancy, there is a 50% chance
that the child will inherit Stickler Syndrome.
Sticklers is an under diagnosed disorder because a patient can be
affected in only certain areas. It is possible for other family members
to affected differently and even more or less severely. Families are
frequently not aware that they have Stickler Syndrome until a child is
born with a palate abnormality, has early degenerative joint changes or
a retinal detachment.
If a child with PRS doesn't present with symptoms of Sticklers in
infancy, they still could show up as the child gets older. Genetic
testing is available but is found to be quite expensive and not
perfected yet. Continued vigilance in vision, hearing and scoliosis
screening needs to be maintained during childhood.
The following is a brief summary of the symptoms as they affect patients
in five different areas. The premature degenerative changes in weight
bearing joints is one of the most consistent features of Sticklers. The
number and severity of symptoms will vary greatly from person to person,
within families and with the aging process.
Auditory: Sensor neural hearing loss and a conductive hearing loss is
also frequently present in patients with a cleft palate due to fluid in
Cardiovascular: Mitral Valve Prolapse. The association of MVP with
Sticklers is somewhat controversial, but many publications still include
it as a possibility.
Ocular: Retinal degeneration, including retinal detachments, holes and
slits; cataracts; myopia (nearsightedness), severe or mild; glaucoma;
Musculoskeletal: Bony enlargement of joints; hyper mobility of joints;
ankle joint instability; kyphhosis and scoliosis; joint pain and
stiffness; arachnodactyly (long and slender fingers); Pectus excavatum
(sunken chest); slender tubular bones.
Orofacial: Flat mid-face; flat nasal bridge; long philtrum (area between
nose and upper lip); micrognathia (small jaw); epicanthic folds; large
and prominent eyes; cleft of hard/soft palate; high arched palate;
submucous cleft palate; bifid uvula.
Special thanks to Stickler Involved People for providing this
information to us