The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare genetic condition caused by pathogenic variants in the KAT6B gene. It ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant is a rare genetic condition. It affects body development before birth and after birth. It is part of the ...
Mental retardation, unusual facies, and hypothyroidism today we use the term intellectual disability instead of “mental retardation.” I will use simple words ...
Hypothyroidism–dysmorphism–postaxial polydactyly–intellectual disability syndrome is a rare genetic condition. Doctors most often call it ...
Blepharophimosis–Intellectual Disability Syndrome, Say-Barber-Biesecker–Young–Simpson type is a rare, genetic neurodevelopmental syndrome. It combines a ...
Blepharophimosis–Intellectual Disability Syndrome, SBBYS type is a rare genetic condition. Children are born with narrow eyelid openings (blepharophimosis) and ...
Ohdo syndrome is a very rare genetic condition. Babies are born with it. It mainly affects the eyes, face, learning, and overall development. A key eye feature ...
Ohdo–Madokoro–Sonoda syndrome is an ultra-rare genetic condition first described in Japan that combines severe limb formation problems (often the absence of ...
Intellectual disability means a person has limits in learning, problem-solving, and everyday life skills. It starts in childhood. Doctors do not diagnose it by ...
Blepharophimosis–intellectual disability syndrome, Ohdo type is a very rare, present-from-birth condition. Children have narrow eye openings ...
X-linked recessive Ohdo syndrome (Maat-Kievit-Brunner type, XLOS) is a very rare genetic condition that almost always affects boys. It is caused by changes ...
Blepharophimosis–intellectual disability syndrome, Maat-Kievit-Brunner type (often shortened to “MKB type”) is a very rare genetic condition. Children have ...
Blepharophimosis–Intellectual Disability Syndrome, MKB type is a very rare genetic condition that mostly affects boys. The eye openings are narrow (this is ...
Blepharophimosis–Intellectual Disability Syndrome (BIDS) is a rare genetic condition. Children are born with blepharophimosis, which means the eye openings are ...
Pashayan syndrome is a very rare genetic condition that changes the way the face, eyes, nose, and sometimes the hands and brain develop. Doctors first ...
Pashayan–Pruzansky syndrome is a very rare genetic condition. It mainly affects the face and the tear-drainage system. Many people with the syndrome also have ...
Blepharonasofacial malformation syndrome is a very rare birth condition that affects the face, especially the eyelids (“blepharo-”), the nose (“naso-”), and ...
Lagophthalmia–cleft lip and palate syndrome (LCCLP) is a rare birth condition where a baby is born with two main problems together: (1) the eyelids do not ...
Elschnig syndrome, which today is more often called Blepharocheilodontic (BCD) syndrome. It is a rare, inherited condition present at birth that mainly affects ...
Ectropion inferior–cleft lip and/or palate syndrome is a rare, inherited condition that starts before birth. “Blepharo” means eyelid, “cheilo” means lip, and ...
Clefting–ectropion–conical teeth syndrome is a rare, inherited condition caused by changes in the TP63 gene that disrupt normal development of ectodermal ...
Blepharo-cheilo-odontic syndrome is a rare genetic condition that affects the eyelids, upper lip, and teeth. “Blepharo” means eyelid, “cheilo” means lip, and ...
Blepharocheilodontic syndrome is a rare genetic condition that is present at birth. It mainly affects the eyelids (blepharo-), the upper lip (-cheilo-), and ...
Bleeding diathesis due to thromboxane synthesis deficiency is a rare bleeding problem. It happens when platelets do not make enough thromboxane A₂ (TXA₂), or ...
Paediatric granulomatous arthritis (PGA) is a rare, inherited, autoinflammatory disease that begins in early childhood. “Autoinflammatory” means the child’s ...
Jabs syndrome is a very rare genetic condition that affects how collagen-rich tissues (skull bones, eyes, and skeleton) form and grow. Children typically have ...
Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial is a rare, inherited inflammatory disease that starts in early childhood. It mainly ...
Granulomatosis means “a body condition where many granulomas form.”A granuloma is a small, tight cluster of immune cells that the body builds when it cannot ...
Early-onset sarcoidosis (EOS) is a rare inflammatory disease that begins in early childhood. It causes the immune system to form tiny clumps of inflammatory ...
Arthro-cutaneo-uveal granulomatosis is a rare, inherited inflammatory disease that starts in early childhood. It mostly affects three places in the body: the ...
Exstrophy of the urinary bladder sequence is a rare birth condition. It starts when a baby is growing in the womb. The lower belly wall does not close. The ...
Congenital exstrophy of the urinary bladder is a birth defect. The lower belly wall does not close in the middle during early pregnancy. The front of the ...
Congenital ectopic bladder means a baby is born with the bladder sitting partly or fully outside the lower belly. The belly wall, pelvic bones, and urinary ...
Bladder exstrophy–epispadias–cloacal exstrophy complex (BEEC) is a group (a spectrum) of rare birth defects that affect the front wall of the belly and the ...
Bladder exstrophy is a rare birth defect. It happens when a baby’s lower tummy wall and the front wall of the bladder do not close before birth. Because of ...
Polyomavirus-associated nephropathy is kidney damage caused by reactivation of a common virus (usually BK polyomavirus) in people who receive a kidney ...
BK-virus nephropathy is kidney damage caused by the BK polyomavirus. Most people catch BK virus in childhood and the virus then “sleeps” silently in the ...
Pili torti-deafness syndrome is a very rare genetic condition. Children are born with, or soon develop, two main problems: (1) pili torti, which means the hair ...
Crandall syndrome is an ultra-rare, inherited condition that combines three main problems: (1) twisted, fragile hair called pili torti that leads to hair loss; ...
Hearing loss–pili torti–hypogonadism syndrome is a very rare genetic condition. It has three main features: (1) progressive sensorineural hearing loss (the ...
Deafness–Pili Torti–Hypogonadism Syndrome is a very rare genetic condition that links three main problems: (1) permanent inner-ear hearing loss (sensorineural ...
Björnstad syndrome is a very rare inherited condition that mainly affects hair and hearing. Children are born with, or develop early in life, pili torti—hair ...
Hornstein–Knickenberg syndrome is a rare, inherited condition. It runs in families in an autosomal-dominant way, so a parent can pass it to a child. It is ...
Acrochordons, also called skin tags, are very common, soft, harmless little growths that hang off the skin by a small “stalk.” They are usually the same color ...
Trichodiscomas are small, harmless bumps that grow from hair-follicle tissue in the skin. Doctors call them hamartomas, which means an overgrowth of normal ...
Fibrofolliculomas are small, smooth, skin-colored bumps that grow around a hair follicle. They are benign (not cancer). Each bump is usually 2–4 mm across, ...
Fibrofolliculomas and trichodiscomas are small, smooth, skin-colored to white bumps that usually show up on the face, neck, behind the ears, and upper trunk. ...
Birt-Hogg-Dubé syndrome is a rare, inherited condition that mainly affects the skin, lungs, and kidneys. It happens because of a change (pathogenic variant) in ...
KCNK9 imprinting syndrome is a very rare genetic condition that mainly affects the brain, muscles, and feeding in babies and children. Most babies are “floppy” ...
KCNK9 (potassium two-pore domain channel, subfamily K, member 9) imprinting syndrome is a very rare genetic condition present from birth. It happens when the ...
Intellectual disability–hypotonia–facial dysmorphism syndrome is an umbrella description doctors use when a child (or adult) has (1) intellectual disability or ...
Birk-Barel type intellectual disability is a very rare genetic neurodevelopmental condition caused by changes (variants) in a gene called KCNK9. The KCNK9 gene ...
Birk-Barel intellectual disability dysmorphism syndrome is a very rare genetic condition. It mainly affects the brain and the muscles. Babies are born with ...
Birk-Barel syndrome is a very rare, inherited brain-development disorder caused by changes in a single gene called KCNK9. This gene makes a potassium “leak” ...
Vitiliginous choroiditis is a long-lasting inflammation inside the back of the eye. It mainly affects the choroid (the layer that feeds the retina) and the ...
Vitiliginous chorioretinitis is a long-lasting inflammation in the back of the eye. It mainly affects the choroid (the blood-rich layer under the retina) and ...
Birdshot retinochoroidopathy is a rare, long-lasting inflammation that affects the back of both eyes. The problem lives in two layers: the retina (the ...
Birdshot retinochoroiditis is a rare, long-lasting eye inflammation. It affects the back of the eye (the retina and the choroid). Doctors see many small, ...
Birdshot lesions” are many small, cream-colored spots in the deeper eye layers (the choroid and retina). They are usually oval and radiate out from the optic ...
Birdshot choroidal lesions are pale, oval or round spots deep in the back of the eye. They sit in the choroid, which is the layer that feeds the retina. These ...
Birdshot chorioretinitis is a rare, long-lasting (chronic) inflammation inside both eyes. It mainly affects the back of the eye: the choroid (the blood-vessel ...
Birdshot chorioretinopathy (BCR) is a rare, long-lasting inflammation inside both eyes. It affects the choroid (the blood-rich layer under the retina) and the ...
Bangstad syndrome is a very rare inherited disorder. It affects growth, movement, hormones, and several body systems from birth. Babies are usually small ...
Ataxia–diabetes–goiter–gonadal insufficiency syndrome—better known as Bangstad syndrome—is an extremely rare, inherited disorder first described in 1989. It ...
Bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency or Bangstad syndrome is a very rare ...
Microcephalic primordial dwarfism, Montreal type is an extremely rare genetic condition. Children have very short height that affects the whole body ...
Bird-headed dwarfism, Montreal type is an extremely rare, multi-system genetic disorder first described in Montreal in 1970. It causes very short stature ...
A bipartite talus (also called talus bipartitus or talus partitus) is a rare developmental variation of the ankle’s talus bone in which the talus forms in two ...
Late-onset multiple carboxylase deficiency is a rare, inherited problem of biotin (vitamin B7) use and recycling. Biotin is a helper for several enzymes called ...
Juvenile-onset multiple carboxylase deficiency (MCD) is an umbrella term for problems in the body’s biotin system. Biotin is a vitamin (vitamin B7) that helps ...
Biotinidase deficiency is a genetic condition that stops the body from recycling biotin, a B-vitamin that enzymes need to turn food into energy and to make ...
Thiamine-responsive encephalopathy is a brain disorder where a shortage of usable thiamine inside brain cells causes swelling and injury in key deep brain ...
Thiamine transporter-2 deficiency is a rare, inherited brain-energy disorder. It happens when a person inherits harmful changes (variants) in a gene called ...
Biotin- or Thiamine-Responsive Encephalopathy Type 2 (THMD2) is a rare, inherited brain energy problem. It happens because cells—especially in deep ...
Thiamine Metabolism Dysfunction Syndrome 2 (TMDS2) is a rare, inherited brain energy problem. Your nerve cells need vitamin B1 (thiamine) to make energy. In ...
Biotin-thiamine-responsive basal ganglia disease is a rare, inherited brain disorder. It damages deep movement-control centers in the brain called the basal ...
Biotin-responsive basal ganglia disease is a rare, inherited brain energy problem. It happens when brain cells cannot move enough thiamine (vitamin B1) into ...
Maxillonasal dysplasia syndrome—often called Binder syndrome—is a rare condition present at birth. It mainly affects the middle of the face, especially the ...
Maxillonasal dysostosis is a rare, birth-present (congenital) condition in which the middle of the face and the nose are under-developed. The bridge of the ...
Binder type maxillonasal dysplasia—often called Binder syndrome—is a rare condition present at birth in which the central face does not develop fully, ...
Maxillo-nasal dysplasia (often called Binder syndrome) is a rare birth condition where the middle part of the face—especially the upper jaw (premaxilla) and ...
Binder syndrome is a rare, birth-present (congenital) condition in which the middle part of the face and the nose do not grow normally. The front of the upper ...
Isolated congenital mirror movements (CMM) is a rare condition present from birth. When a person moves one hand or arm on purpose, the other hand or arm copies ...
Isolated congenital contralateral synkinesia means a person is born with involuntary movements on one side of the body that copy the voluntary movement on the ...
Hereditary congenital mirror movements (often shortened to CMM) is a rare genetic movement condition present from early childhood. When a person tries to make ...
Hereditary congenital contralateral synkinesia is a rare, lifelong movement disorder where an intentional movement on one side of the body is “mirrored” by an ...
Hand mirror movements are involuntary, copy-cat motions that appear in one hand while you are trying to move only the other hand. For example, when you pinch ...
Familial congenital mirror movements is a rare, often lifelong condition where a voluntary movement on one side of the body (usually a hand or fingers) is ...
Familial congenital contralateral synkinesia means a person is born with extra, unintended movements on one side of the body that copy (or “mirror”) the ...
Bimanual synkinesia means that when you choose to move one hand, the other hand makes the same unwanted movement at the same time. The two hands “mirror” each ...
Nuclear jaundice means brain injury in a newborn caused by very high levels of unconjugated bilirubin (the yellow pigment that makes newborns look jaundiced). ...
Unconjugated bilirubin is a yellow waste pigment that your body makes when it breaks down old red blood cells. First, hemoglobin from red cells becomes ...
Kernicterus is brain damage caused by very high levels of a yellow substance in the baby’s blood called unconjugated bilirubin. When bilirubin is too high, it ...
Bilirubin encephalopathy means brain injury caused by very high levels of unconjugated (indirect) bilirubin in a newborn’s blood. Unconjugated bilirubin can ...
A malignant tumor of the biliary tract is a cancer that starts in the thin tubes that carry bile. These tubes are called the bile ducts, and they run inside ...
A malignant biliary tree neoplasm is a cancer that starts in the tubes that carry bile. These tubes are called the bile ducts. They run inside the liver and ...
Biliary tree cancer means cancer that starts in the thin tubes that carry bile from the liver to the small intestine. Doctors group it as intrahepatic (inside ...
Biliary tract cancer is a group of cancers that start in the tubes and organs that carry and store bile. Bile is a yellow-green fluid the liver makes to help ...
Perinatal biliary atresia is a disease of newborn babies. The small tubes that carry bile from the liver to the intestine are damaged and blocked. Bile cannot ...
Non-syndromic biliary atresia is a liver disease in newborn babies. The tiny tubes that carry bile (the bile ducts) become inflamed, scarred, and blocked. Bile ...
Isolated atresia of the bile ducts means the tubes that carry bile from a baby’s liver to the intestine are blocked or missing. Bile is a fluid that helps ...
Congenital biliary duct atresia (biliary atresia) is a disease of newborn babies. The small tubes that carry bile from the liver to the intestine do not open ...
Atresia of bile ducts means that the tubes that carry bile from a baby’s liver to the intestine are scarred, narrowed, or completely blocked. Bile is a ...
Biliary atresia is a rare disease in newborns where the bile ducts outside (and sometimes inside) the liver are blocked or missing. Bile cannot flow from the ...
Bile acid-CoA ligase deficiency and defective amidation is a rare, inherited problem in how the liver “finishes” bile acids. Normally, the liver first ...
Your liver makes bile acids. Bile acids help digest fat and absorb vitamins A, D, E, and K. Before bile acids can work well, the liver must “activate” and ...
Primary familial brain calcification (PFBC) is a rare, inherited brain condition. In PFBC, tiny hard deposits made of calcium form in certain deep areas of the ...
Cerebrovascular ferrocalcinosis means there is abnormal build-up of minerals—mainly calcium and often iron-related deposits—within the walls of small blood ...
“Basal ganglia degeneration with calcification” means that tiny, rock-like calcium deposits build up inside deep brain areas called the basal ganglia. Over ...
Basal ganglia calcification means tiny to large deposits of calcium salts inside deep brain areas called the basal ganglia (especially the globus pallidus, ...
Bilateral striopallidodentate calcinosis (BSPDC) is a rare brain condition where calcium-rich deposits build up on both sides of deep brain areas that control ...
Bilateral polymicrogyria is a problem in how the brain’s surface (the cortex) forms before birth. In PMG, the brain makes too many very small folds (gyri), and ...
