Benign mucous membrane pemphigoid is a chronic autoimmune blistering disease that mainly attacks moist linings of the body, called mucous membranes. These ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Otitic hydrocephalus is a rare, serious complication of a middle-ear or mastoid infection in which pressure inside the skull (intracranial pressure) rises even ...
Nonne–Froin (Froin’s) syndrome happens when CSF can’t move freely because something is blocking the spinal canal or severely irritating the meninges (the ...
Noninfective serous meningitis means inflammation of the meninges (the thin coverings of the brain and spinal cord) with no bacteria growing on routine ...
Benign intracranial hypertension (Idiopathic Intracranial Hypertension, IIH) is a condition where the pressure of the fluid around the brain (cerebrospinal ...
Benign Infantile Seizures Associated with Mild Gastroenteritis is a short-lived seizure condition that happens in babies and young children during a mild ...
Benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE) is a rare epilepsy syndrome that starts in very young children. “Infantile” ...
Benign familial nocturnal alternating hemiplegia of childhood (BNAHC) is a very rare childhood condition in which a child has repeated night-time attacks of ...
Benign Familial Neonatal-Infantile Seizures 1 (BFNIS1) is a genetic epilepsy syndrome in which seizures start very early in life—anytime from the first days ...
Benign familial infantile convulsions are seizures that start in otherwise healthy infants in the first year of life, run in families, and tend to stop on ...
Benign Familial Infantile Epilepsy (BFIE) is a genetic epilepsy syndrome where a baby who is otherwise healthy begins having seizures in the first year of ...
Benign concentric annular macular dystrophy (BCAMD) is a rare, inherited eye condition that slowly changes the macula—the central part of the retina that gives ...
Cystosarcoma phyllode of the breast —now usually called a phyllodes tumor—is a rare breast growth that starts in the connective (stromal) tissue of the breast ...
A fibroepithelial breast lump is a growth in the breast made of two parts: fibrous (support) tissue and gland (milk-duct) tissue. The two main types are ...
A benign breast phyllodes tumor is a rare, fast-growing fibroepithelial breast lump made of breast ducts and a leaf-like (phyllodes) overgrowth of supporting ...
Benign angiitis of the central nervous system means inflammation of blood vessels inside the brain and spinal cord. “Benign” is an old word and not accurate, ...
Familial cortical myoclonic tremor with epilepsy is a rare, inherited brain disorder. It causes tiny, shock-like muscle jerks that look like a shaky tremor, ...
Autosomal dominant cortical myoclonus and epilepsy (ADCME) is a rare, inherited brain disorder. “Autosomal dominant” means one changed gene from either parent ...
Benign adult familial myoclonic epilepsy (BAFME) is a rare, inherited brain condition. It usually starts in late teenage years or during adult life. The main ...
Hemifacial hyperplasia-strabismus syndrome is a very rare condition where one side of the face grows more than the other, and the person also has eye ...
Hemifacial hyperplasia–strabismus syndrome is a very rare birth condition where one side of the face grows more than the other and the eyes do not point in the ...
Bencze syndrome is an extremely rare birth condition. It causes one side of the face to grow a little more than the other, and it often appears together with ...
Oculo-cerebral dysplasia describes very rare developmental conditions present from birth in which eye structures and the brain form abnormally, often alongside ...
Behrens-Baumann-Vogel syndrome is a very rare birth condition that affects the eyes and the brain. Babies are born with very small eyes (microphthalmia) and ...
Behrens-Baumann–Dust syndrome is a very rare, inherited condition that mainly affects the eyes and the brain. It was first described in two siblings who had ...
Behavioral variant frontotemporal dementia (bvFTD) is a progressive brain disorder that mainly damages the frontal and temporal lobes, the regions that control ...
Lethal hydrocephalus–cardiac malformation–dense bones syndrome is a very rare, likely genetic condition seen before birth or at delivery. Babies have ...
Benign pseudohypertrophic muscular dystrophy is an older name for Becker muscular dystrophy (BMD). It is a genetic, X-linked muscle disease. ...
Benign congenital myopathy means a group of genetic muscle problems that start at birth or early childhood. The main signs are soft muscles (low tone), weak ...
X-linked recessive Becker muscular dystrophy (BMD) is a genetic muscle disease. It happens when a change (mutation) in the DMD gene lowers the amount or ...
Becker dystrophinopathy is a genetic muscle disease. It causes slow loss of muscle strength over time. It mostly affects boys and men. It happens because the ...
Becker muscular dystrophy (BMD) is a genetic muscle disease. It weakens muscles slowly over many years. It mainly affects boys and men. The problem is a change ...
Beare–Stevenson cutis gyrata syndrome (often shortened to “Beare–Stevenson syndrome” or “BSS”) is a very rare genetic condition. Babies are born with ...
Bathing suit ichthyosis is a rare, inherited skin condition. It belongs to a family of diseases called autosomal recessive congenital ichthyosis (ARCI). Most ...
Migraine with brainstem aura is a kind of migraine where the warning signs (called aura) come from the brainstem—the deep part of the brain that helps control ...
Basilar migraine is the older name for migraine with brainstem aura. It is a migraine in which the “warning phase” (the aura) comes from the brainstem—an area ...
Basan–Baird syndrome is a very rare genetic skin condition present from birth. Babies are born with no fingerprints or toeprints (a finding called ...
Basan syndrome or “absence of fingerprints–congenital milia syndrome.” It is an extremely rare, autosomal-dominant ectodermal dysplasia caused by variants in ...
Absence of fingerprints–congenital milia syndrome is a very rare genetic skin condition. Babies are born with no fingerprints on their fingers, palms, toes, or ...
Absence of dermatoglyphics–congenital milia syndrome is a very rare inherited skin condition where a baby is born without fingerprints (no dermatoglyphics), ...
Basan syndrome is a very rare, inherited skin condition. Babies are born without normal fingerprint ridges (adermatoglyphia). Soon after birth they may have ...
Basal ganglia calcification, idiopathic, childhood-onset means calcium-like deposits build up inside deep brain areas called the basal ganglia (and sometimes ...
Basal cell carcinoma with follicular differentiation (BCC-FD) is a special pathologic variant of basal cell carcinoma (the most common skin cancer). In this ...
Infantile Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that starts before birth. Babies lose too much salt ...
Bartter syndrome with sensorineural hearing loss (type IV) is a rare, inherited kidney salt-wasting disorder that begins before or soon after birth. The ...
Bartter syndrome with sensorineural deafness is a rare, inherited kidney salt-wasting disorder that also causes permanent hearing loss. The kidney problem ...
Bartter syndrome type 4 is a rare, inherited kidney tubule disorder. The kidney cannot reabsorb enough salt in a specific segment of the nephron (the thick ...
Salt-losing tubular disorder (often called salt-losing nephropathy) means the kidneys’ tiny tubes (tubules) cannot reabsorb enough salt (mainly sodium and ...
Renal Tubular Normotensive Hypokalemic Alkalosis with Hypercalciuria is a salt-wasting kidney tubule disorder. The kidney’s thick ascending limb of the loop of ...
Bartter syndrome with hypercalciuria and nephrocalcinosis is a rare, inherited kidney salt-wasting disorder. The problem lives in the “thick ascending limb” of ...
Aldosteronism with hyperplasia of the adrenal cortex means your adrenal glands (small glands that sit on top of the kidneys) have grown more cells than normal ...
Bartter syndrome is a group of rare, inherited kidney tubule disorders. The problem happens in a part of the kidney called the thick ascending limb of the loop ...
A salt-wasting kidney tubule disorder means the tiny tubes in the kidneys cannot take salt back into the blood the way they should. Because salt pulls water, ...
Classic Bartter syndrome is a rare, lifelong, inherited kidney salt-wasting disorder. It mainly happens because a small protein channel in the kidney does not ...
Adult Bartter syndrome is a salt-wasting kidney tubule disorder that usually begins in late childhood, the teen years, or even in adult life. The kidney’s ...
Bartter disease type 3 is a rare, inherited kidney condition. The kidneys normally reabsorb salt (sodium chloride) from the urine back into the blood. In type ...
Lethal popliteal pterygium syndrome (LPPS) is a very rare genetic condition present from birth. Babies are born with tight skin bands or webs across one or ...
Bartsocas-Papas syndrome 1 (BPS1) is a very rare, inherited birth condition. It mainly affects the skin and tissues that come from the outer layer of the ...
X-linked cardioskeletal myopathy and neutropenia is a rare, inherited disease that mainly affects boys. It harms the heart muscle (cardiomyopathy), skeletal ...
TAZ-related dilated cardiomyopathy is a heart muscle disease caused by changes (mutations) in the TAFAZZIN (TAZ) gene on the X chromosome. The TAZ gene makes a ...
Cardioskeletal myopathy–neutropenia syndrome is a rare, inherited condition that mainly affects the heart muscle, skeletal (body) muscles, and white blood ...
Cardioskeletal myopathy with neutropenia and abnormal mitochondria clinicians know this mostly as Barth syndrome, an ultra-rare, X-linked mitochondrial ...
3-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 ...
Barth syndrome is a rare genetic condition that mostly affects boys. It is caused by changes (mutations) in a gene called TAFAZZIN (TAZ) on the X chromosome. ...
Baroreflex syndrome—often called afferent baroreflex failure—is a rare problem in the body’s blood-pressure “autopilot.” Normally, stretch sensors in the ...
Baroreflex failure is a disorder of the body’s automatic blood-pressure control system. In healthy people, pressure sensors (baroreceptors) in the carotid ...
Baryta miners’ disease is a lung dust disease that happens after breathing barium sulfate dust for a long time, usually in barite (barytes) mines or dusty jobs ...
Barium pneumoconiosis is a lung condition that happens when a person breathes in barium dust for many months or years, usually at work. The dust is most often ...
Barium lung disease, also called baritosis, is a type of pneumoconiosis (dust-related lung disease) that happens after breathing in barium dust for a long ...
Baritosis is a harmless (“benign”) form of pneumoconiosis that happens when people breathe in tiny particles of barium sulfate dust at work (for example, when ...
Bardet-Biedl syndrome caused by mutation in the BBS9 gene (BBS9-BBS) is a rare, inherited disease that affects many organs. It happens because tiny hair-like ...
Bardet–Biedl syndrome 9 (BBS9) is a type of Bardet–Biedl syndrome (BBS) that happens when a child inherits harmful changes (pathogenic variants) in the BBS9 ...
Bardet-Biedl syndrome (BBS) caused by mutation in TTC8 is a rare, inherited condition that affects many body systems. It is a multisystem ciliopathy caused by ...
Bardet–Biedl syndrome 8 is one genetic form of Bardet–Biedl syndrome (BBS), a rare, inherited condition that affects many body systems because tiny “antennae” ...
Bardet-Biedl syndrome 7 (BBS7) is a genetic condition that affects many organs. It belongs to a group of disorders called ciliopathies. In ciliopathies, tiny ...
Bardet-Biedl syndrome 6 (BBS6) is a genetic type of Bardet-Biedl syndrome caused by harmful changes (variants) in a gene called MKKS (also known as BBS6). BBS ...
Bardet–Biedl syndrome (BBS) is a rare, inherited condition that affects many parts of the body. It belongs to a family of disorders called ciliopathies. This ...
Bardet-Biedl syndrome 5 is a genetic form of Bardet-Biedl syndrome (BBS) that happens when both copies of a person’s BBS5 gene carry harmful changes. BBS is a ...
Bardet–Biedl syndrome (BBS) is a rare, inherited condition that affects “primary cilia,” tiny antenna-like parts on many cells. Faulty cilia disturb signals ...
Bardet-Biedl syndrome type 3 is a rare, inherited condition. It affects many body systems. The main problems are with the eyes, weight, hands and feet, ...
Bardet–Biedl syndrome 3 is a rare, inherited condition that affects many parts of the body. It happens when both copies of a gene called ARL6 (also known as ...
BBS2-related Bardet-Biedl syndrome is a rare, inherited condition that affects many parts of the body. It happens when there are harmful changes (mutations) in ...
Bardet–Biedl Syndrome (BBS) Due to a BBS2 Gene Mutation is a rare, inherited condition that affects the body’s primary cilia, the tiny “antennae” on cells that ...
Bardet–Biedl syndrome 2 is a genetic condition that affects many body systems. It happens when a person inherits harmful changes (variants) in a gene called ...
Bardet-Biedl syndrome caused by mutation in BBS12 is a rare, inherited condition that affects many organs. It is a ciliopathy, which means tiny hair-like parts ...
Bardet-Biedl syndrome (BBS) is a rare, inherited condition that affects many body systems because tiny cell parts called primary cilia do not work properly. ...
Bardet–Biedl syndrome caused by mutation in TRIM32 (BBS11) is a rare genetic condition that affects many body systems. It mainly harms the light-sensing cells ...
Bardet-Biedl syndrome 11 is a rare genetic disease. It affects many body systems. It happens when both copies of a gene called TRIM32 do not work properly. ...
Bardet–Biedl syndrome (BBS) is a rare inherited condition that affects many body systems because tiny “hairs” on cells—called cilia—do not work properly. These ...
Bardet-Biedl Syndrome 10 (BBS10) is a genetic condition that belongs to the Bardet-Biedl syndrome (BBS) family. BBS10 happens when both copies of a person’s ...
Bardet-Biedl syndrome 1 (BBS) is a rare, inherited condition that affects many parts of the body. It happens because of changes in genes that guide tiny ...
LMBB (Laurence-Moon–Bardet–Biedl) syndrome is a rare, inherited condition that affects many body systems. It happens because tiny hair-like cell parts called ...
Bardet-Biedl syndrome (BBS) is a rare, inherited condition that affects many body systems because tiny cell parts called cilia do not work properly. Cilia act ...
Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (usually called Barber–Say syndrome) is a very rare genetic condition that affects the outer body ...
Barber–Say syndrome is an extremely rare, present-at-birth (congenital) condition that mainly affects the skin, hair, eyelids, mouth, and facial shape. Babies ...
Fryns-Aftimos syndrome is a very rare, genetic condition that affects how the face, brain, eyes, and other body systems develop. Many children have a ...
COFS syndrome is a very rare, inherited, progressive disorder that starts before birth and affects the brain, eyes, face, and skeleton. Babies are usually born ...
Cerebro-oculo-facial-lymphatic syndrome (COFLS) is a very rare condition first described in medical journals in which the brain (cerebro-), eyes (oculo-), face ...
Baraitser–Winter cerebrofrontofacial syndrome is a rare genetic condition that affects how the face, eyes, brain, and other parts of the body develop before ...
Baraitser-Winter syndrome is a rare genetic condition that mainly affects the brain and the face. Babies and children with BWS often have a recognizable facial ...
Tumor Susceptibility Linked to Germline BAP1 Mutations is an inherited condition. A person is born with a harmful change (mutation) in one copy of the BAP1 ...
Tumor Predisposition Syndrome 1” refers to a rare, inherited condition caused by harmful (pathogenic) changes in the BAP1 gene. The BAP1 gene normally helps ...
BAP1-related tumor predisposition syndrome is an inherited condition that makes a person more likely to develop certain tumors during life. It happens when a ...
Ruvalcaba-Myhre-Smith syndrome is an older name for what doctors today call Bannayan–Riley–Ruvalcaba syndrome (BRRS). BRRS belongs to a family of conditions ...
Myhre–Riley–Smith syndrome is a genetic condition that starts early in life and affects how body tissues grow and organize. Children are often large at birth ...
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition. It belongs to a family of disorders called PTEN hamartoma tumor syndrome (PHTS). The main ...
Banki syndrome is a very rare bone condition. It affects how the small bones of the wrist and the bones of the hand grow and join. The most important feature ...
Band heterotopia is a birth-time (congenital) problem in brain development. In early pregnancy, new brain cells (neurons) are supposed to travel outward to ...
Hypothyroidism and cleft palate syndrome is a rare genetic condition in which a baby is born with an under-active or missing thyroid gland (congenital ...
Athyroidal hypothyroidism with spiky hair and cleft palate syndrome is a very rare genetic disorder in which a baby is born without a thyroid gland ...
This condition is a genetic syndrome. Babies are born without a thyroid gland or with a very tiny thyroid (so they have congenital hypothyroidism). They also ...
Bamforth–Lazarus syndrome is a very rare genetic condition. Babies are born with congenital hypothyroidism (the thyroid gland does not work or is missing), and ...
