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Frequency. 1 in 5,000 [ 1] Ehlers–Danlos syndromes ( EDS) are a group of 13 genetic connective-tissue disorders. [ 7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1] These may be noticed at birth or in early childhood. [ 3]
A British study from 2008 found a median estimated life expectancy of 8.7 years for patients with Hurler syndrome. In comparison, the median life expectancy for all forms of MPS type I was 11.6 years. Patients who received successful bone marrow transplants had a 2-year survival rate of 68% and a 10-year survival rate of 64%. Patients who did ...
Frequency. Up to 1/8,333 [ 2] Facioscapulohumeral muscular dystrophy ( FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of ...
In dogs, hip dysplasia is an abnormal formation of the hip socket that, in its more severe form, can eventually cause lameness and arthritis of the joints. It is a genetic (polygenic) trait that is affected by environmental factors. It is common in many dog breeds, particularly the larger breeds, and is the most common single cause of arthritis ...
Evans syndrome is an autoimmune disease in which an individual's immune system attacks their own red blood cells and platelets, the syndrome can include immune neutropenia. [ 1][ 2] These immune cytopenias may occur simultaneously or sequentially. [ 1][ 3] Its overall phenotype resembles a combination of autoimmune hemolytic anemia and immune ...
Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. [6] Life expectancy is generally normal. [6] TCS occurs in about one in 50,000 people. [5] The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900. [7] [8]
Cornelia de Lange syndrome ( CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.
A 1996 study published in the British Medical Journal found that mortality in type III OI is significantly higher, with many patients dying in their 20's, 30's, and 40's; patients who survive to the age of 10 were further found to have longer life expectancy than newborns.