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
Known hypersensitivity to valproate or any of the ingredients used in the preparation
Urea cycle disorders
Hepatic porphyria
Hepatotoxicity
Mitochondrial disease
Pancreatitis
Porphyria

Adverse effects
Valproic acid has a black box warning for hepatotoxicity, pancreatitis, and fetal abnormalities.It is worthy of mentioning that some adverse effects related to valproic acid may be dose-dependent such as pancytopenia.There is evidence that valproic acid may cause premature growth plate ossification in children and adolescents, resulting in decreased height. Valproic acid can also cause mydriasis, a dilation of the pupils. There is evidence that shows valproic acid may increase the chance of polycystic ovary syndrome (PCOS) in women with epilepsy or bipolar disorder. Studies have shown this risk of PCOS is higher in women with epilepsy compared to those with bipolar disorder. Weight gain is also possible. Pregnancy
Valproate causes birth defects; exposure during pregnancy is associated with about three times as many major abnormalities as usual, mainly spina bifida with the risks being related to the strength of medication used and use of more than one drug. More rarely, with several other defects, including a "valproate syndrome". Characteristics of this valproate syndrome include facial features that tend to evolve with age, including a triangle-shaped forehead, tall forehead with bifrontal narrowing, epicanthic folds, medial deficiency of eyebrows, flat nasal bridge, broad nasal root, anteverted nares, shallow philtrum, long upper lip and thin vermillion borders, thick lower lip and small downturned mouth.