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Kenny–Caffey syndrome type 2 (KCS2) is an extremely rare autosomal dominant genetic condition characterized by dwarfism, farsightedness, microphthalmia, and skeletal abnormalities. [1] This subtype of Kenny–Caffey syndrome is caused by a heterozygous mutation in the FAM111A gene (615292) on chromosome 11q12.
In those with systemic disease, life expectancy can be affected, and this varies based on subtype. [3] Death is often due to lung, gastrointestinal, or heart complications. [3] About three per 100,000 people per year develop the systemic form. [3] The condition most often begins in middle age. [1] Women are more often affected than men. [1]
Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of the lower joints of the spine, occurring in a standing position.
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).
Women in the United States can expect to live nearly six years longer than men, as disparities in deaths from Covid-19 and drug overdoses drive the life expectancy gap to the widest it’s been in ...
The reduced reserve capacity of organ systems, muscle, and bone create a state where the body is not capable of coping with stressors such as illness or falls. Frailty can lead to increased risk of adverse side effects, complications, and mortality. [12] Older age by itself is not what defines frailty, it is however a syndrome found in older ...
Morvan's syndrome is a rare, life-threatening autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan. "La chorée fibrillaire" was first coined by Morvan in 1890 when describing patients with multiple, irregular contractions of the long muscles, cramping, weakness, pruritus, hyperhidrosis, insomnia and delirium. [1]
Nearly 2.3 million people are estimated to be living with multiple sclerosis around the world, but when Montel Williams received his official diagnosis back in 1999, not much was known about the ...