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Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
Fibrodysplasia ossificans progressiva (/ ˌ f aɪ b r oʊ d ɪ ˈ s p l eɪ ʒ (i) ə ɒ ˈ s ɪ f ɪ k æ n z p r ə ˈ ɡ r ɛ s ɪ v ə /; [1] abbr. FOP), also called Münchmeyer disease or formerly myositis ossificans progressiva, is an extremely rare connective tissue disease in which fibrous connective tissue such as muscle, tendons, and ligaments turn into bone tissue (ossification).
"The Mayo Clinic defines it as "a rare disorder found at birth involving problems in the development of certain blood vessels, soft tissues (such as skin and muscles), bones and sometimes the ...
A rare disease is technically defined (in the European Union) as a disease that is found in fewer than 5 people per every 10,000 people. ...
People with this disease experience an abnormal thickening of the skin, according to the National Organization for Rare Disorders. In addition to hard leathery patches of skin, joint pain, fatigue ...
Hutchinson-Gilford progeroid syndrome (HGPS) is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at an early age. [8] Its occurrence is usually the result of a sporadic germline mutation ; although HGPS is genetically dominant, people rarely live long enough to have children ...
A 29-year-old man’s debilitating night terrors were the first sign of rare autoimmune disorder that rapidly progressed, landing him in the intensive care unit in a “catatonic state.” Ben ...
A rare disease is any disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan ...