Raymond's syndrome
Web{"id":1343521,"askingMember":null,"house":2,"memberHasInterest":false,"dateTabled":"2024-07-05T00:00:00","dateForAnswer":"2024-07-19T00:00:00","uin":"HL1719","heading ... WebLoeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta. Aneurysms and dissections …
Raymond's syndrome
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WebApr 24, 2024 · Raynaud’s Phenomenon. 1 /15. This condition causes “attacks” that limit blood supply to fingers and toes, which may get pale, cold and numb. As blood returns, … WebAug 20, 2024 · Jérôme Lejeune (1926−1994) Jérôme Lejeune was a French physician and researcher who studied genetics and developmental disorders. According to the Jérôme Lejeune Foundation, in 1958, Lejeune discovered that the existence of an extra twenty-first chromosome, a condition called Trisomy 21, causes Down Syndrome.
WebRothmund–Thomson syndrome ( RTS) is a rare autosomal recessive [3] [4] skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 … WebApr 23, 2024 · Schwachman-Diamond syndrome (SDS) is an autosomal recessive multisystem disease caused by mutations in the SBDS (Shwachman-Bodian-Diamond …
WebMar 31, 2024 · Thrombocytopenia-absent radius (TAR) syndrome is a rare disorder that is present at birth (congenital). It is characterized by low levels of platelets in the blood … WebRaynaud’s (pronounced “ray-nodes”) is found in about 4 to 15 percent of the population. It affects females more than males, and tends to begin in the teen years. Color changes …
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