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Bloom syndrome (often abbreviated as BS in literature) [1] is a rare autosomal recessive genetic disorder characterized by short stature, predisposition to the development of cancer, and genomic instability.
Howard Bloom [1] Publicist and writer American Olaf Bodden [8] Professional soccer player German Jennifer Brea [9] Documentary filmmaker and activist American Ricky Carmichael [10] Motocross racer American Cher [1] [11] Recording artist, actress, director, and record producer American Roger Cicero [12] Jazz and pop musician German Pema ...
In 2006, some doctors diagnosed Sellars as having Proteus syndrome, a very rare condition thought to affect only 120 people worldwide, [1] but more recent diagnoses have focused on a PIK3CA gene mutation. Some reports still describe her condition as a rare form of Proteus syndrome, [2] but Sellars herself has disputed the diagnosis. [3]
Stiff-person syndrome, aka Moersch-Woltman syndrome, is a neurological disorder that can cause symptoms such as stiffening in the muscles of the trunk, along with stiffness and rigidity in the ...
Like many autoimmune diseases, SPS exists on a spectrum and, as a result, symptoms can look quite different in different people, Dr. Scott Newsome, head of the Johns Hopkins Stiff Person Syndrome ...
After battling the debilitating symptoms for 13 years, the 23-year-old Edinboro woman is currently in remission. Kylie Allen-Kulyk, shown in a 2021 file photo taken at UPMC Hamot, is currently in ...
An eponymous disease is a disease, disorder, condition, or syndrome named after a person, usually the physician or other health care professional who first identified the disease; less commonly, a patient who had the disease; rarely, a literary character who exhibited signs of the disease or an actor or subject of an allusion, as characteristics associated with them were suggestive of symptoms ...
Cornelia de Lange syndrome (CdLS) is a genetic disorder. People with Cornelia de Lange syndrome experience a range of physical, cognitive, and medical challenges ranging from mild to severe. Cornelia de Lange syndrome has a widely varied phenotype, meaning people with the syndrome have varied features and challenges.