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No cure for Ehlers–Danlos syndrome is known, and treatment is supportive. Close monitoring of the cardiovascular system, physiotherapy, occupational therapy, and orthopedic instruments (e.g., wheelchairs, bracing, casting) may be helpful. This can help stabilize the joints and prevent injury.
Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. [citation needed]
What is Ehlers-Danlos syndrome? It’s actually a group of 13 related disorders caused by different genetic defects in collagen, an essential building block, according to the National Organization ...
Gorlin's sign. Gorlin’s sign is a medical term that indicates the ability in humans to touch the tip of the nose with the tongue. [1] Approximately ten percent of the general population can perform this act, but fifty percent of people with Ehlers–Danlos syndrome (an inherited connective tissue disorder) have the ability.
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation, [3] or tethered spinal cord syndrome.
This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers–Danlos syndrome, Down syndrome, Klippel–Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta, and other medical conditions. [1] [2]