What is the incidence of Stickler syndrome?
Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I is the most common form of the condition.
How common is Barth syndrome?
Barth syndrome affects all ethnic groups. The incidence of Barth syndrome is estimated to be 1 in 300,000 to 1 in 400,00 in United States.
Is Stickler syndrome common?
Stickler syndrome affects males as well as females. Prevalence rates have been estimated at 1-3 per 10,000 births and at 1 per 7,500 births. Most investigators believe that the disorder is highly under-diagnosed, making it difficult to determine the true prevalence of Stickler syndrome in the general population.
What are the common features of Alstrom Syndrome?
Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy ), obesity, type 2 diabetes (the most common form of diabetes), and short stature.
How many people are affected by Barth syndrome?
Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.
How many people in the world have Alstrom syndrome?
Affected Populations Alström syndrome affects males and females in equal numbers. The exact incidence is unknown. Estimates have ranged from 1 in 10,000 to less than 1 in 1,000,000 individuals in the general population. Approximately 1200 affected individuals have been identified worldwide.
What is the life expectancy of Alstrom Syndrome?
The life span of patients with Alström Syndrome rarely exceeds 40 years. There is no specific therapy for Alström Syndrome, but early diagnosis and intervention can moderate the progression of the disease phenotypes and improve the longevity and quality of life for patients.
How many people have Marshall syndrome?
Marshall-Smith Syndrome is a rare disorder that has only been documented in about 50 individuals worldwide. It appears to affect males and females equally. Symptoms are typically present at birth, such as the previously escribed characteristic facial features.
Is Marshall syndrome hereditary?
Because Marshall syndrome is an autosomal dominant hereditary disease, physicians can also note the characteristic appearance of the biological parent of the child. There are no tests for Stickler syndrome or Marshall syndrome.
Is PRS hereditary?
Syndromic PRS is inherited following the same genetic pattern as the condition that it is associated with, meaning that this may vary depending on the syndrome. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease.