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 articleCongenital diarrhea 6, often shortened to DIAR6, is a very rare inherited bowel disease that usually starts at birth or very early in life. It is...
Read articleNon-syndromic congenital tufting enteropathy, often called isolated congenital tufting enteropathy, is a very rare inherited intestinal disease that usually starts in the newborn period with severe...
Read articleCongenital diarrhea 5 with tufting enteropathy is a very rare inherited disease of the small intestine. Doctors also call it congenital tufting enteropathy or intestinal epithelial...
Read articleCongenital defect of folate absorption is a rare inherited disease in which the body cannot take in folate properly from the intestine and cannot move enough...
Read articleDistal arthrogryposis type 9 is an old name for congenital contractural arachnodactyly, often shortened to CCA. Many experts now prefer the name congenital contractural arachnodactyly because...
Read articleBeals-Hecht syndrome, also called congenital contractural arachnodactyly (CCA), is a rare inherited connective tissue disorder. It is usually caused by a change in the FBN2 gene,...
Read articleCongenital contractural arachnodactyly is a rare genetic connective tissue disorder that mainly affects the bones, joints, muscles, ears, and body shape. “Congenital” means it is present...
Read articleU12 small nuclear mutation usually means a disease caused by a problem in the minor spliceosome, the small cell machine that removes U12-type introns from RNA before...
Read articleCongenital cerebellar ataxia due to RNU12 mutation is a very rare inherited brain disorder. It starts very early in life, often in infancy, and mainly affects...
Read articleCongenital cataract-severe neonatal hepatopathy-global developmental delay syndrome is an ultra-rare genetic disorder. In this condition, a baby is born with cataracts, which means the clear lens...
Read articleMyopathy, mitochondrial progressive, with congenital cataract and developmental delay is a very rare inherited mitochondrial disease. It is now often grouped under GFER-related primary mitochondrial disease....
Read articleCongenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome is an ultra-rare genetic mitochondrial myopathy. It is described by congenital cataract, progressive low muscle tone, sensorineural hearing loss, developmental...
Read articleCongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is an ultra-rare genetic mitochondrial myopathy. In very simple words, it is a condition in which the body’s energy-making...
Read articleBasel-Vanagaite-Smirin-Yosef syndrome is a very rare inherited genetic disorder. It mainly affects brain development, learning, speech, growth, and several body systems. Most reported children have severe...
Read articleCongenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is a very rare genetic disorder. It starts early in life. A baby may be born with cataracts in...
Read articleCongenital cataract-ichthyosis syndrome is an extremely rare inherited disorder in which a baby is born with cataract and ichthyosis together. A cataract means the clear lens...
Read articleCongenital bronchobiliary fistula is a very rare birth defect. In this condition, an abnormal tube-like passage connects part of the breathing system, such as the trachea...
Read articleCongenital brain dysgenesis due to glutamine synthetase deficiency is an ultra-rare inherited neurometabolic disease. It is also called GLND, congenital glutamine deficiency, inherited glutamine synthetase deficiency,...
Read articleSerpentine-like syndrome is a very rare congenital malformation syndrome. “Congenital” means the baby is born with it. It is mainly described by a very short esophagus...
Read articleCongenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome is an ultra-rare birth defect syndrome. It is also called a rare syndromic esophageal malformation. In this condition, the food pipe,...
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