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 articleCOG1-congenital disorder of glycosylation (COG1-CDG) is an ultra-rare genetic disease. It belongs to the big group called congenital disorders of glycosylation (CDG). In this condition, a...
Read articlePena-Shokeir syndrome type 2 is a very rare genetic condition in which a baby has very little movement before birth, many stiff joints, webbing of skin...
Read articleHypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial features is a rare genetic condition that doctors now group under Coffin–Siris syndrome 1 (CSS1) or ARID1B-related Coffin–Siris syndrome....
Read articleARID1B-related BAFopathy is a rare genetic brain-development condition. It happens when there are changes (variants) in a gene called ARID1B. This gene helps make a protein...
Read articleCoffin-Siris syndrome 1 is a very rare genetic condition that affects how a child grows and develops, especially the brain, face, fingers, and toes. It usually...
Read articleShort stature-onychodysplasia is a very rare genetic condition where a person is very short in height and has poorly formed nails (onychodysplasia). It usually belongs to...
Read articleFifth digit syndrome is another name for Coffin–Siris syndrome. It is a rare genetic condition. It mainly affects the little finger or little toe (the fifth...
Read articleCoffin-Siris syndrome is a rare genetic condition that affects many parts of the body, especially the brain, face, fingers, toes, hair, and growth. Children usually have...
Read articleX-linked dominant Coffin-Lowry syndrome is a rare genetic condition that affects how the brain, bones, and other body systems grow and work. It is present from...
Read articleCoffin-Lowry syndrome is a rare genetic condition that affects many parts of the body, especially the brain, face, bones, heart, and muscles. It usually causes learning...
Read articleCodas syndrome is a very rare genetic disease that affects many parts of the body, especially the brain, eyes, teeth, ears, and bones. Doctors use the...
Read articleCockayne syndrome type 3 is a very rare, inherited disease that affects many parts of the body, especially the brain, eyes, ears, skin, and growth. It...
Read articleCockayne syndrome type 2 is a very rare, very severe genetic disease that starts at birth or even before birth. It affects many parts of the...
Read articleCockayne syndrome caused by mutation in ercc8 is a rare genetic disease that affects many parts of the body, especially the brain, eyes, ears, skin, and...
Read articleClassical Cockayne syndrome type 1 is a rare inherited disease. It mainly affects how a child grows and how the brain, eyes, ears, skin, and other...
Read articleLissencephaly type 5 (often written as LIS5) is a very rare genetic brain problem where the surface of the brain does not form normal folds and...
Read articleCobb syndrome is a very rare condition where a child or adult has abnormal blood vessels in the skin and in the spine in the same...
Read articleCerebroretinal microangiopathy with calcifications and cysts (often shortened to CRMCC) is a very rare inherited disorder that mainly affects the brain and the eyes, and can...
Read articleGentile syndrome is a very rare genetic disease. It belongs to the same family of diseases as Joubert syndrome, which affects the brain, and congenital hepatic...
Read articleCerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis– is another name for a rare genetic condition called COACH syndrome. The word COACH is...
Read article
