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Lesions lips, patient with hemorrhagic hereditary telangiectasia. Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease and Osler–Weber–Rendu syndrome, is a rare autosomal dominant genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver, and brain.
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome , a nevus formation in the skin supplied by the trigeminal nerve and associated with facial port-wine stains, glaucoma , meningeal angiomas and intellectual disabilities
AVMs may occur in isolation or as a part of another disease (for example, Sturge-Weber syndrome or hereditary hemorrhagic telangiectasia). [22] AVMs have been shown to be associated with aortic stenosis. [23] Bleeding from an AVM can be relatively mild or devastating. It can cause severe and less often fatal strokes. [1]
Hereditary hemorrhagic telangiectasia, or Rendu-Osler-Weber disease; Hilbert–Huang transform; Hiphop Tamizha, an Indian musical duo; Historic House Trust of New York City; Historic Houses Trust, New South Wales; Omega-hydroxypalmitate O-feruloyl transferase, an enzyme; Howard Thompson (film critic), who wrote under the pen name HHT
There is no cure for EMD, but symptoms can be managed. Some symptom management includes eating slower and taking smaller bites; in some cases medications can be useful to manage other issues that contribute to EMD such as a proton pump inhibitor to ease gastroesophageal reflux (acid reflux), or a smooth muscle relaxant for issues with the muscles.
Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, [1] is a rare, neurodegenerative disease causing severe disability. Ataxia refers to poor coordination and telangiectasia to small dilated blood vessels, both of which are hallmarks of the disease. [2] A–T affects many parts of ...
Histologically, it resembles telangiectasia and development is related to age and strain on the bowel wall. [1] It is a degenerative lesion, acquired, probably resulting from chronic and intermittent contraction of the colon that is obstructing the venous drainage of the mucosa.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.