Browse plain-English disease and condition guides, including symptoms, causes, diagnosis, treatment options, prevention, and when to seek medical care.
Anal Anomalies–Porokeratosis Syndrome, often referred to as AAPS, is a rare medical condition that affects various aspects of a person’s health. In this comprehensive article, we...
Read article11β-HSD2 deficiency is a rare genetic condition in which the body cannot properly switch the hormone cortisol into its inactive form, cortisone, inside certain kidney cells....
Read article1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short arm...
Read article1q21.1 deletion syndrome (also called 1q21.1 microdeletion) is a genetic disorder caused by the loss of a small segment of DNA on the long arm (q...
Read article1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a chromosomal copy-number variant in which a small segment of genetic material on the long (q) arm of...
Read article1q21.1 recurrent microdeletion is a tiny missing piece of DNA on chromosome 1, at a place called “1q21.1.” In this condition, one copy of chromosome 1...
Read article2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This enzyme helps break...
Read article2,8-dihydroxyadenine (DHA) urolithiasis is a rare form of kidney stone disease. It happens when the body cannot recycle the purine base adenine in the normal “salvage”...
Read article2,8-dihydroxyadeninuria is a rare, inherited problem of purine recycling. Your body normally reuses adenine (a building block of DNA) using an enzyme called APRT (adenine phosphoribosyltransferase)....
Read article21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are...
Read article3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this condition, the liver cannot make...
Read article3-methylglutaconic aciduria type 2 is a rare, inherited condition that almost always affects boys. It is also called Barth syndrome. It happens because of a change...
Read articleBloom-Torre-Machacek Syndrome is a rare genetic disorder that can cause various health problems. In this simplified guide, we’ll break down everything you need to know about...
Read articleBloom syndrome is a rare genetic disorder that can affect various aspects of a person’s health and development. In this article, we’ll break down the complex...
Read articleBeare-Stevenson Cutis Gyrata Syndrome (BSCGS) is a rare genetic disorder that affects the development of the skull and skin. In this article, we will provide you...
Read articleFollicular atrophoderma may sound complicated, but we’re here to break it down for you in simple terms. In this article, we’ll explain what follicular atrophoderma is,...
Read articleBazex syndrome, also known as Bazex-Dupré-Christol syndrome, is a rare genetic disorder that affects the skin and other body systems. This condition can cause various symptoms...
Read articleBart Syndrome is a rare medical condition that affects the kidneys and can lead to various health problems. In this article, we will provide a simple...
Read articleAutoimmune Ectodermal Dystrophy Syndrome, also known as AEDS, is a rare and complex medical condition that affects various parts of the body, particularly the skin, hair,...
Read articleAutoimmune polyendocrinopathy is a rare but complex condition that affects multiple glands in the body. This article aims to provide simple, easy-to-understand explanations of the types,...
Read articleAtrophodermia Vermiculata is a rare skin condition that can affect individuals of all ages. In this article, we will provide simple and clear explanations of what...
Read articlePapular atrichia is a rare skin condition that affects hair follicles, leading to hair loss and the development of small bumps on the skin. In this...
Read articleAtrichia with papular lesions is a rare skin condition that affects individuals, leading to hair loss and the development of small, raised bumps on the skin....
Read articleLouis-Bar syndrome, also known as ataxia-telangiectasia (A-T), is a rare genetic disorder that affects various systems in the body. In this article, we will provide simple...
Read articleAtaxia telangiectasia (A-T) is a rare genetic disorder that affects various aspects of a person’s health. This article provides a simplified overview of A-T, including its...
Read articleArthrogryposis-renal dysfunction-cholestasis Syndrome, often referred to as ARC Syndrome, is a rare genetic disorder that affects various systems in the body, including the musculoskeletal, renal, and...
Read articleAcrocephalosyndactyly is a rare genetic disorder that affects the development of a person’s head, face, hands, and feet. It can have different types, causes, symptoms, and...
Read articleApert syndrome is a rare genetic condition that affects the way a person’s face, skull, and hands develop. In this article, we will break down Apert...
Read articleFerguson-Smith Type of Multiple Self-Healing Keratoacanthomas, often referred to simply as Ferguson-Smith Keratoacanthomas, is a rare skin condition characterized by the development of multiple self-healing growths...
Read articleAutoimmune Progesterone Dermatitis (APD) is a rare, unusual condition related to sensitivity to a woman’s own progesterone. This disorder is connected to the menstrual cycle, presenting...
Read articleAutoimmune estrogen dermatitis is a form of autoimmunity. This means your immune system, which typically fights off harmful things like bacteria and viruses, mistakenly attacks your...
Read articleThe ongoing shift toward automation and artificial intelligence (AI) technologies is rapidly reshaping the modern workforce. There’s a popular misconception that AI is merely a tech...
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