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 articleChildhood tumor syndrome is a complex condition that affects children, leading to the development of tumors or abnormal growths in their bodies. In this article, we’ll...
Read articleClouston Syndrome is a rare genetic disorder that affects a person’s hair, skin, and nails. In this article, we will break down Clouston Syndrome into simple...
Read articlePorokeratosis Palmaris et Plantaris (PPP) is a rare skin condition that primarily affects the palms of the hands and the soles of the feet. This article...
Read articleMal de Meleda is a rare genetic skin disorder that affects a person’s palms, soles, and sometimes other parts of the body. This article aims to...
Read articleHowel-Evans Syndrome, also known as palmoplantar keratoderma with esophageal cancer (PPKE), is a rare genetic condition that can lead to skin and digestive problems. In this...
Read articleGreither’s Keratoderma Syndrome, also known as Greither’s syndrome or keratoderma hereditarium mutilans, is a rare genetic disorder that affects the skin, nails, and, in some cases,...
Read articleVohwinkel Syndrome is a rare genetic disorder that affects the skin and can cause various complications. In this article, we’ll provide plain English explanations for the...
Read articleEpidermolytic Palmoplantar Keratoderma (EPPK) is a rare genetic skin disorder that affects the palms of the hands and soles of the feet. This condition can cause...
Read articlePalmoplantar keratoderma (PPK) is a skin condition that primarily affects the palms of the hands and soles of the feet. It can lead to thickened, dry,...
Read articleKeratoderma syndrome is a rare skin disorder that affects the palms of the hands and soles of the feet. It can be challenging to navigate this...
Read articleNeuropathy-Ichthyosis-Keratoderma Syndrome, often abbreviated as NI-KS, is a rare genetic disorder that affects various aspects of an individual’s health. In this article, we’ll provide simple, easy-to-understand...
Read articleCerebral dysgenesis is a complex medical condition that affects the development of the brain. In simple terms, it means that the brain doesn’t form properly before...
Read articleMetaphyseal chondrodysplasia is a rare genetic condition that affects the growth of bones in the body. It’s important to break down this complex medical term into...
Read articleCartilage-hair hypoplasia (CHH) is a rare genetic disorder that affects various parts of the body. In this article, we’ll simplify the complex medical jargon and provide...
Read articleFacial dysmorphism is a term used to describe unusual or abnormal facial features that differ from the typical appearance. These differences can result from various causes...
Read articleCardiofaciocutaneous syndrome (CFC syndrome) is a rare genetic disorder that affects various parts of the body, leading to a range of physical and developmental challenges. In...
Read articleCantú syndrome is a rare genetic disorder that affects various parts of the body. In this article, we will explore the different aspects of Cantú syndrome...
Read articleShort stature syndrome, often referred to as dwarfism, is a condition characterized by an individual’s significantly shorter height compared to the average height for their age...
Read articleBrittle hair and intellectual impairment are two distinct health issues, but they can sometimes be interconnected. In this article, we will discuss each condition separately, providing...
Read articleBlue Rubber Bleb Nevus Syndrome (BRBNS) is a rare medical condition that affects blood vessels and can cause a variety of symptoms.Blue Rubber Bleb Nevus Syndrome...
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