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 articleCone dystrophy, X-linked, with tapetal-like sheen is a very rare inherited eye disease that mainly affects the light-sensitive cone cells in the retina (the thin nerve...
Read articleJackson-Barr syndrome is a very rare genetic condition that affects hearing, the eyelids, the skeleton (bones and joints), and some parts of the skin, hair, and...
Read articleConductive deafness–ptosis–skeletal anomalies syndrome is a very rare genetic syndrome where a person is born with a block in the sound-path of the ear (conductive hearing...
Read articleMengel-Konigsmark syndrome is a very rare genetic disorder present from birth. It is mainly known for conductive hearing loss and abnormal outer ear shape. In many...
Read articleCompton-North congenital myopathy (also called congenital lethal myopathy, Compton-North type or MYPCN) is an extremely rare genetic muscle disease that starts before birth and is usually...
Read articleComplex regional pain syndrome (CRPS) is a long-lasting pain problem that usually starts in one arm, hand, leg, or foot after an injury or a medical...
Read articleComplex regional pain syndrome (CRPS) is a long-lasting pain problem that usually starts in one arm, hand, leg, or foot after an injury or a medical...
Read articleNon-specific syndromic intellectual disability means a child or adult has lifelong learning problems together with other body problems (for example facial differences, heart defect, short height...
Read articleA complex neurodevelopmental disorder means that a child (or sometimes an adult) has problems in more than one area of brain development at the same time....
Read articleComplex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type, is a very rare inherited bone and cartilage disease that affects a baby before birth and is usually fatal in the...
Read articleOsteochondrodysplasia is a big medical word for a large group of rare problems where bone and cartilage do not grow in the usual way. [1] These...
Read articleComplex lethal osteochondrodysplasia is a very rare, inherited bone and cartilage disorder that starts before birth and is usually fatal for the fetus or newborn baby....
Read articleTUBB2B complex cortical dysplasia with other brain malformations (often shortened to CDCBM7) is a very rare brain development disease that starts before birth. [1] In this...
Read articlePolymicrogyria due to TUBB2B mutation is a rare brain development problem that starts before birth. In this condition, the outer layer of the brain (the cortex)...
Read articleComplex cortical dysplasia with other brain malformations caused by mutation in TUBB2B is a very rare genetic brain disorder. In this condition, the outer layer of...
Read articleComplex cortical dysplasia with other brain malformations type 1 is a very rare brain problem that starts before birth. In this condition, brain cells do not...
Read articleComplex cortical dysplasia with other brain malformations caused by mutation in TUBB3 is a rare genetic brain disorder. In this condition, the outer layer of the...
Read articleComplex cortical dysplasia with other brain malformations 1 (often shortened to CDCBM1) is a very rare genetic brain disease. In this condition, the outer layer of...
Read articleMosaic trisomy 20 syndrome happens when some of the body’s cells have an extra copy of chromosome 20, but other cells have the normal number of...
Read articleComplete trisomy 20 syndrome is a genetic condition where a person has three copies of chromosome 20 instead of the usual two copies. Chromosomes are tiny...
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