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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]
Prognosis. Reduced life expectancy. Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). [ 3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (GAGs, also known as mucopolysaccharides).
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 ...
D019644. MedlinePlus. 002975. [ edit on Wikidata] Hip replacement is a surgical procedure in which the hip joint is replaced by a prosthetic implant, that is, a hip prosthesis. [ 1] Hip replacement surgery can be performed as a total replacement or a hemi/semi (half) replacement.
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 the upper ...
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]
Kabuki syndrome. Kabuki syndrome (previously known as Kabuki-makeup syndrome ( KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. [ 1][ 2] It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. [ 3]
1 in 40,000 to 42,000 births, females more affected than males. Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome, is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [ 1]: 578 It can result in a limited ability to move the neck and ...