Rare Diseases
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Acromegaly2
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Adrenoleukodystrophy1
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Agenesis of the corpus callosum1
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Alkaptonuria1
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Alström syndrome1
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Angelman syndrome1
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Anti-NMDA receptor encephalitis1
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Arginase deficiency1
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Arterial tortuosity syndrome1
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Bainbridge-Ropers syndrome1
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Bardet-Biedl syndrome1
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Basal cell nevus syndrome1
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Batten disease1
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Beals syndrome1
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Beta-thalassemia1
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Biotinidase deficiency1
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Bloom syndrome1
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Blue Rubber Bleb Nevus Syndrome1
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Bohring-Opitz syndrome1
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Brain calcifications syndrome1
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Brown-Vialetto-Van Laere syndrome1
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Canavan disease1
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Cardiomyopathy1
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Charcot-Marie-Tooth disease1
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Chediak-Higashi syndrome1
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Chronic Granulomatous Disease1
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Cockayne syndrome1
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Complex Regional Pain Syndrome1
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Conradi-Hünermann-Happle syndrome1
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Cri-du-chat syndrome1
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Cystic fibrosis1
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De Lange syndrome1
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DiGeorge syndrome1
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Duchenne muscular dystrophy1
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Dystonia1
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Ectodermal dysplasia1
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Ehlers-Danlos syndrome1
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Emery-Dreifuss muscular dystrophy1
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Encephalopathy1
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Epidermolysis bullosa1
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Familial Amyloid Polyneuropathy1
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Familial Hypercholesterolemia1
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Familial Mediterranean fever1
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Fanconi Anemia1
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Fanconi-Bickel syndrome1
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Fibrodysplasia Ossificans Progressiva (FOP)1
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Friedreich's Ataxia1
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Galactosemia1
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Gaucher disease1
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Gauchers syndrome1
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Glutaric aciduria type 11
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Guillain-Barré syndrome1
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Histiocytosis X1
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Holt-Oram syndrome1
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Hyper IgM syndrome1
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Hypomelanosis of Ito1
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Hypophosphatasia1
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Ichthyosis1
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Idiopathic pulmonary fibrosis1
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Joubert syndrome1
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Klinefelter syndrome1
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Lafora disease1
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Leber's hereditary optic neuropathy1
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Leigh syndrome1
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Lennox-Gastaut syndrome1
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Lesch-Nyhan syndrome1
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Limb-Girdle muscular dystrophy1
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Lupus1
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Machado-Joseph disease1
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Maple syrup urine disease1
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Marfan syndrome1
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MDS (Myelodysplastic syndromes)1
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Menkes disease1
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Metachromatic Leukodystrophy1
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Mitochondrial diseases1
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Moebius syndrome1
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Morquio syndrome1
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Mucopolysaccharidosis1
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Mucopolysaccharidosis type II1
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Neurofibromatosis type 11
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Neurofibromatosis type 21
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Niemann-Pick disease1
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Noonan syndrome1
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Ormond disease1
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Osteogenesis imperfecta1
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Pallister-Killian syndrome1
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Paroxysmal Nocturnal Hemoglobinuria1
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Patau syndrome1
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Phelan-McDermid syndrome1
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Pierre Robin sequence1
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Prader-Willi syndrome1
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Pulmonary arterial hypertension1
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Retinitis pigmentosa1
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Rett syndrome1
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Rosenberg-Chutorian syndrome1
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Sandhoff disease1
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Schimke Immuno-Osseous Dysplasia1
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Sickle cell disease1
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Spinal muscular atrophy1
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Stargardt disease1
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Stiff-Person syndrome1
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Tay-Sachs disease1
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Tuberous sclerosis1
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Turner syndrome1
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Usher syndrome1
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VACTERL association1
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Vascular Ehlers-Danlos syndrome1
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Von Hippel-Lindau syndrome1
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Wilson disease1
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Zellweger syndrome1
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Acromegaly: A Comprehensive Overview
Acromegaly: A Comprehensive Overview SummaryAcromegaly is a rare endocrine disorder caused by a benign pituitary somatotroph adenoma that secretes excess growth hormone (GH), leading to elevated insulin‑like growth factor‑1 (IGF‑1) and progressive tissue hypertrophy. The prevalence is approximately 5.9 per 100 000 people, with an incidence of 0.38 per 100 000 person‑years. Diagnosis is often delayed by 5–6 years due to insidious symptom…
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Discover the World of Rare Diseases: Challenges and Breakthroughs
Discover the World of Rare Diseases: Challenges and Breakthroughs The world of rare diseases is vast, complex, and often underexplored. Although they affect a small portion of the global population, these conditions pose enormous challenges for patients and their families. Each of these diseases has unique, often invisible characteristics, making early diagnosis and appropriate treatment difficult. In this space, we…
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Diseases: From Prevention to Treatment — Everything You Need to Know
Diseases: From Prevention to Treatment — Everything You Need to Know Diseases impact individuals, families, and entire societies in countless ways. Understanding their causes, treatments, and prevention is essential for promoting health and wellness. This overview explores key aspects of diseases—from therapies and healthcare professionals to prevention, education, and scientific advances—offering insights that empower better health choices and quality of…
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