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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
When present, symptoms usually relate to painless bleeding, with vomiting blood (hematemesis) and/or black stools . [3] Less often, Dieulafoy's lesions may cause rectal bleeding (hematochezia), or rarely, iron deficiency anemia. Usually, there are no gastrointestinal symptoms that precede the bleeding (abdominal pain, nausea, etc.).
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria.
Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain-related symptoms include tremors, muscle stiffness, trouble in speaking, personality changes, anxiety, and psychosis. [1]
Cushing's syndrome is a collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. [4] [9] [10] Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face due to facial plethora, [11] a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals ...
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Eosinophilic granulomatosis with polyangiitis consists of three stages, but not all patients develop all three stages or progress from one stage to the next in the same order; [7] whereas some patients may develop severe or life-threatening complications such as gastrointestinal involvement and heart disease, some patients are only mildly affected, e.g. with skin lesions and nasal polyps. [8]