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 articleB2C and B2-B businesses can build brand awareness through Facebook marketing. The trick is knowing which of Facebook’s many free and paid options are best for...
Read articleBronchiolitis obliterans organizing pneumonia (BOOP) is a rare inflammatory form of idiopathic diffuse interstitial lung disorder that was first described in the 1980s as a unique...
Read articleBranchiootorenal spectrum disorders are inherited as autosomal dominant genetic conditions characterized by malformations of the outer, middle, and inner ear associated with conductive, sensorineural, or mixed...
Read articleGenetics is the scientific study of genes and heredity—of how certain qualities or traits are passed from parents to offspring as a result of changes in DNA...
Read articleBranch-oculo-facial syndrome (BOFS) is a rare genetic autosomal dominant multiple-malformation congenital disorder with defects of the head and neck facies, growth retardation, imperforate nasolacrimal duct, and...
Read articleBowenoid Papulosis is a rare, uncommon sexually transmitted cutaneous condition that occurs in both males and females and causes thought to be caused by human papillomavirus...
Read articleBowen Hutterite syndrome is a rare genetic lethal autosomal recessive disorder characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional...
Read articleBowen disease is a rare chronic atypical slowly progressive epithelial proliferation in-situ squamous cell carcinoma (SCC) of epidermis skin disorder characterized by multiple well-demarcated red-brown to...
Read articleBosma arhinia microphthalmia (BAM) syndrome is an extremely rare genetic congenital disorder characterized by severe hypoplasia of the nose and eyes, palatal abnormalities, deficient taste and...
Read articleBörjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare X-linked recessive intellectual disability (ID) disorder characterized by mutations in the PHF6 gene and characterized by variable cognitive impairment,...
Read articleBoring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that has distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable...
Read articleBean syndrome is also known as Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital blood vessel (vascular) anomaly in various organ systems including the liver,...
Read articleBlue rubber bleb nevus syndrome (BRBNS) is also known as Bean syndrome. is a rare congenital blood vessel (vascular) anomaly in various organ systems including the...
Read articleBlue diaper syndrome is a rare, genetic metabolic disorder characterized by the incomplete intestinal breakdown of tryptophan, a dietary nutrient for bluish urine-stained diapers. It is...
Read articleBloom syndrome (Bryn) also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema is a rare genetic autosomal recessive inherited, disorder characterized by genomic instability and predisposition to...
Read articleBlepharophimosis, ptosis, and epicenters inverses syndrome (BEES) is a rare developmental condition affecting the four major features of eyelids and ovary, all present at birth: blepharophimosis, ptosis,...
Read articleBlastomycosis is a rare infectious multisystem disease that is caused by the fungus Blastomyces dermatitidis. The symptoms vary greatly according to the affected organ system. It...
Read articleBladder exstrophy-epispadias-cloacal dystrophy complex is a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system, and sometimes the intestinal tract. In classic bladder dystrophy,...
Read articleBjornstad syndrome (BS) is an extremely rare autosomal recessive genetic disorder characterized by abnormally flattened, mental retardation, hearing loss, twisted hair shafts (pili torti), and, in...
Read articleHornstein–Knickenberg syndrome is a rare, autosomal dominantly inherited genodermatosis complex genetic monogenic skin disorder (genodermatosis) characterized by multiple cutaneous hamartomas (namely fibrofolliculomas and trichodiscomas) and increased...
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