Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a subtype of collagenopathy, types II and XI. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. It was first studied and characterized by Gunnar B. Stickler in 1965. Signs and symptoms
Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. In addition, each feature of this syndrome may vary from subtle to severe.A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped or sometimes V-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to ear infections and occasionally  swallowing difficulties.Many people with Stickler syndrome are very nearsighted (described as having high myopia) because of the shape of the eye. People with eye involvement are prone to increased pressure within the eye (ocular hypertension) which could lead to glaucoma and tearing or detachment of the light-sensitive retina of the eye (retinal detachment).
Diagnosis
Types
Genetic changes are related to the following types of Stickler syndrome:
Stickler syndrome, COL2A1 (75% of Stickler cases)
Stickler syndrome, COL11A1
Stickler syndrome, COL11A2(non-ocular)
Stickler syndrome, COL9A1 (recessive variant)
Stickler syndrome, COL9A2 (recessive variant)
Stickler syndrome, COL9A3 (recessive variant)
Stickler Syndrome, LOX3   (Recessive, 7 cases reported)Whether there are two or three types of Stickler syndrome is controversial. Each type is presented here according to the gene involved. The classification of these conditions is changing as researchers learn more about the genetic causes. Treatment
Many professionals that are likely to be involved in the treatment of those with Sticklers syndrome, include anesthesiologists, oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, optometrists, audiologists, speech pathologists, occupational therapists, physical therapists and rheumatologists. History
Scientists associated with the discovery of this syndrome include:
B. David (medicine)
Gunnar B. Stickler
G. Weissenbacher
Ernst Zweymüller

See also
Mandy Haberman, invented the Haberman Feeder
Marshall syndrome
Pierre Robin syndrome

References
External links

GeneReviews/NCBI/NIH/UW entry on Stickler Syndrome