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 articleX-linked dominant Chondrodysplasia Punctata (CDPX1) is a rare genetic disorder that affects bone and cartilage development. X-Linked Dominant Chondrodysplasia Punctata (CDPX1) is a genetic condition that...
Read articleHapple syndrome is a rare genetic disorder that can affect the skin, hair, and nails. In this article, we will break down the different types of...
Read articleConradi–Hünermann–Happle syndrome, often abbreviated as CDPX2, is a rare genetic disorder that affects various parts of the body. In this article, we’ll break down the essential...
Read articleConradi-Hünermann syndrome is a rare genetic disorder that affects various parts of the body, leading to a range of physical and developmental challenges. In this article,...
Read articleCHILD syndrome is a rare genetic disorder that affects various parts of the body, including the skin, limbs, and organs. This article aims to provide simple...
Read articleLimb Defects Syndrome, also known as Limb Malformation Syndrome, refers to a group of conditions where individuals are born with abnormalities in their limbs. These abnormalities...
Read articleIchthyosiform erythroderma is a rare skin condition that can cause redness, scaling, and dryness. It’s important to understand what this condition is, its possible causes, symptoms,...
Read articleCongenital hemidysplasia is a rare medical condition that affects a person from birth, causing abnormalities in one side of the body. In this article, we will...
Read articleKaye Syndrome is a rare genetic disorder that can affect individuals in various ways. In this article, we’ll break down the different aspects of Kaye Syndrome...
Read articleZunich Neuroectodermal Syndrome (ZNS) is a rare genetic disorder that affects various aspects of a person’s health. In this article, we’ll provide you with simple, easy-to-understand...
Read articleCHIME syndrome is a rare genetic disorder that affects a person’s development and overall health. This article aims to provide a clear and simplified explanation of...
Read articleMental Retardation-Ear Defects Syndrome, also known as Smith-Magenis Syndrome (SMS), is a rare genetic disorder that affects various aspects of a person’s development. In this article,...
Read articleColobomas of the eye-heart defects, also known as CHARGE syndrome, is a rare genetic disorder that affects various parts of the body. This condition can have...
Read articleColobomas of the eye-heart defects is a rare medical condition that affects both the eyes and the heart. In this article, we will break down complex...
Read articleCockayne Syndrome (CS) is a rare genetic disorder that affects various aspects of a person’s health and development. In this article, we’ll break down Cockayne Syndrome...
Read articlePorokeratosis syndrome is a rare skin condition that can affect people of all ages. It’s important to understand what porokeratosis syndrome is, its various types, causes,...
Read articleAnal 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 articleCraniosynostosis is a condition that affects the skull’s growth in infants and young children. In this article, we will provide simple, easy-to-understand explanations for various aspects...
Read articleCicatricial junctional epidermolysis bullosa (CJEB) is a rare and painful skin condition that affects people from birth. In this article, we will provide a straightforward explanation...
Read articleChondrodysplasia punctata (CDP) is a rare genetic disorder that affects bone and cartilage development in the human body. This article aims to provide a comprehensive understanding...
Read article
