Stickler syndrome type II (STL2) occurs due to mutations of the COL11A1 gene on chromosome 1p21.
Q. Who discovered Stickler syndrome?
Stickler syndrome is a progressive genetic disorder of connective tissue throughout the body. The condition was first described by Dr. Gunnar B. Stickler in 1965 and was originally called “Hereditary Progressive Arthro-ophthalmopathy” because of its tendency to affect the joints and the eyes.
Table of Contents
- Q. Who discovered Stickler syndrome?
- Q. How is Stickler Syndrome diagnosed?
- Q. Can people with Stickler syndrome have kids?
- Q. Is Stickler syndrome more common in males or females?
- Q. Can Stickler syndrome skip a generation?
- Q. Is Stickler Syndrome considered a disability?
- Q. Can Stickler syndrome be cured?
- Q. Can Stickler syndrome be detected before birth?
- Q. Is Stickler syndrome dominant or recessive?
- Q. How many types of Stickler syndrome are there?
- Q. What does Glossoptosis mean?
- Q. What is the charge Syndrome?
- Q. Is Charge Syndrome a rare disease?
- Q. What organ systems are affected by charge Syndrome?
- Q. How does charge syndrome occur?
- Q. What is the life expectancy of a person with Charge Syndrome?
- Q. Can children with Charge Syndrome talk?
Q. How is Stickler Syndrome diagnosed?
Stickler syndrome
- Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
- Eye exams. These exams can help your doctor detect problems with the jellylike material (vitreous) that fills the eye or with the lining of the eye (retina), which is crucial for sight.
- Hearing tests.
Q. Can people with Stickler syndrome have kids?
If one of the parents is also affected, there’s a 50 percent chance that the next child will also have it. If neither parent has Stickler syndrome, the risk to have another child with Stickler syndrome is thought to be low.
Q. Is Stickler syndrome more common in males or females?
How common is Stickler syndrome? Doctors diagnose Stickler syndrome in roughly 1 out of 7,500-9,000 newborns. It affects males and females equally.
Q. Can Stickler syndrome skip a generation?
Unlike some genetic syndromes, a person will not have a “carrier” gene for this disorder that can be passed on to the next generation without the parent having Stickler syndrome themselves.
Q. Is Stickler Syndrome considered a disability?
Social Security Benefits If you or your dependent(s) are diagnosed with Stickler Syndrome and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.
Q. Can Stickler syndrome be cured?
While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.
Q. Can Stickler syndrome be detected before birth?
Molecular genetic testing can be used to diagnose Stickler syndrome. A clinical geneticist can discuss this in detail with you and arrange for it, if appropriate. Your doctor may suggest it to confirm a suspected diagnosis or for prenatal diagnosis.
Q. Is Stickler syndrome dominant or recessive?
Stickler syndrome caused by pathogenic variants COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.
Q. How many types of Stickler syndrome are there?
There are five types of Stickler syndrome: Stickler syndrome type I, Stickler syndrome type II, Stickler syndrome type III, Stickler syndrome type IV, and Stickler syndrome type V. Individuals with Stickler syndrome type I tend to have milder hearing loss, nearsightedness, and type 1 membranous vitreous anomaly.
Q. What does Glossoptosis mean?
Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue. It may cause non-fusion of the hard palate, causing cleft palate. It is one of the features of Pierre Robin sequence and Down syndrome.
Q. What is the charge Syndrome?
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities.
Q. Is Charge Syndrome a rare disease?
CHARGE syndrome is a rare disorder, affecting 0.1-1.2/10,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE than those described in the medical literature.
Q. What organ systems are affected by charge Syndrome?
CHARGE syndrome (OMIM #214800) is a congenital disorder that affects several organ systems with variable severity and includes coloboma of the eye, heart anomalies, atresia of choanae (nasal passages), retardation of mental and genital development, ear anomalies and/or deafness (Pagon et al., 1981).
Q. How does charge syndrome occur?
CHARGE syndrome is caused by mutations in the CHD7 gene in the majority of cases. Almost all mutations in affected individuals are de novo , which means they occur for the first time as new mutations and are not inherited from a parent.
Q. What is the life expectancy of a person with Charge Syndrome?
Children with CHARGE have been shown to have a 70% survival rate to five years of age (from actuarial survival analysis). 1,2 The death rate is the highest in the first year of life.
Q. Can children with Charge Syndrome talk?
About 60% of children with CHARGE acquire symbolic language and communicate with spoken language, signs, and/or visual symbols. The mechanics of speech may be affected by craniofacial anomalies, breathing problems, and clefts.
