Verloes-Bourguignon syndrome is a very rare, inherited condition that mainly affects the teeth and the spine. Children usually have weak or very thin tooth ...
Selective tooth agenesis-5 (often shortened to STHAG5) is a genetic form of “missing teeth from birth.” In this condition, one or more permanent teeth never ...
Platyspondyly amelogenesis imperfecta is a very rare inherited disorder that affects the spine and the teeth. “Platyspondyly” means the bones of the spine ...
Dental anomalies are unusual changes in the teeth. They can affect how many teeth you have, how big they are, what shape they are, how strong the enamel (the ...
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome is a very rare genetic disorder. It affects the spine, body height, and teeth. ...
Brachyolmia-amelogenesis imperfecta syndrome is a very rare, inherited condition that affects the spine, body height, hips, and teeth. Children grow with a ...
Brachyolmia, Maroteaux type—also called brachyolmia type 2 (BCYM2)—is a rare, inherited bone disorder. It mainly affects the spine. Children typically look ...
Brachyrachia means a short spine. Doctors also call it short spine dysplasia. It is a rare genetic bone condition where the bones of the spine (the vertebrae) ...
Brachyolmia is a rare group of genetic bone conditions where the spine’s vertebral bodies are flatter than normal (a finding called platyspondyly). People ...
Senior syndrome or Senior–Løken syndrome (SLSN) — the rare oculo-renal ciliopathy that combines nephronophthisis (kidney scarring that leads to chronic kidney ...
Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome is a very rare genetic condition. People are usually short in height. The little finger and little ...
Brachydactyly-syndactyly syndrome is a rare, inherited condition that affects the hands and feet. “Brachydactyly” means the fingers or toes are shorter than ...
Preaxial Brachydactyly with Hallux Varus and Thumb Abduction means the short bones are on the “preaxial” side of the limb. This is the thumb side in the hand ...
Christian brachydactyly is a very rare birth condition that affects the hands and feet. “Brachydactyly” means short fingers or toes. “Preaxial” means the thumb ...
Brachydactyly-preaxial hallux varus syndrome is a very rare, inherited hand–foot difference. Brachydactyly means some digits are short....
Biemond syndrome is the name used for two very rare patterns of findings described in medical reports. In the older usage, “Biemond syndrome” ...
Brachydactyly-nystagmus-cerebellar ataxia syndrome is a very rare congenital condition where a person is born with short fingers or toes (brachydactyly), ...
Stratton-Garcia-Young syndrome is another name used in medical catalogs for a very rare condition officially described as brachydactyly-mesomelia-intellectual ...
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome is a very rare, genetic condition that affects several parts of the body at the same ...
Brachydactyly-long thumb syndrome is a very rare, inherited condition. “Brachydactyly” means the fingers (and sometimes toes) are short. In this syndrome, the ...
Brachydactyly–joint dysplasia syndrome is a descriptive term for people who have short digits (short bones in the fingers or toes) together with joints that ...
Brachydactyly–elbow-wrist dysplasia syndrome, also called Liebenberg syndrome, is a rare genetic disorder of limb development. It typically shows: malformed ...
brachydactyly type E, with short stature and hypertension is best known as hypertension-with-brachydactyly syndrome (HTNB) or Bilginturan syndrome—a very rare, ...
Bilginturan brachydactyly syndrome is a rare, inherited condition. People are born with short fingers and toes (a pattern called brachydactyly type E) and ...
Brachydactyly–arterial hypertension syndrome is a rare, inherited disorder. People have short fingers and toes (a pattern called brachydactyly type E) and ...
Brachydactyly type E is a birth condition where some of the long bones in the hands and feet are shorter than usual. The bones most often affected are the ...
Brachydactyly Type C is a rare birth condition where some finger bones are shorter than usual. Most often, the middle bones of the index, middle, and little ...
Brachydactyly type B is a rare, inherited hand and foot difference where the outermost bones of the fingers and toes (called distal phalanges) do not fully ...
Smorgasbord-type brachydactyly is a very rare, inherited hand-and-foot difference where some fingers or toes are shorter than usual and show a “mix” of ...
Brachydactyly type A7 (BDA7) is a very rare birth condition where some bones of the fingers and toes are shorter or shaped differently than usual. Doctors call ...
Temtamy-type brachydactyly is a rare, inherited hand-and-foot difference where some of the middle finger and toe bones are short or missing. The change mainly ...
Brachymesophalangy means a short middle finger bone (middle phalanx). When doctors say “II and V”, they mean it affects the 2nd finger (index finger = II) and ...
Brachydactyly type A4 is a birth difference of the hands and feet where certain finger and toe bones are short or missing. In BDA4, the middle phalanges (the ...
Brachymesophalangy V means the middle bone of the little finger (5th finger) is short. The little finger may also bend toward the thumb side (this bend is ...
Brachydactyly–clinodactyly means a person has short digits and sideways-curved digits. “Brachydactyly” is the medical word for short fingers or toes because ...
Brachydactyly type A3 (BDA3) is a congenital hand difference in which the middle bone (middle phalanx) of the little finger is shorter than usual, often making ...
Short stature with non-specific skeletal abnormalities, type 2” (SSNSA-2) is a genetic skeletal dysplasia. Children and adults are short for age and have ...
Farabee-type brachydactyly (BDA1) is a rare, inherited difference of the hands (and sometimes feet) where the middle finger bones (called middle phalanges) are ...
Brachydactyly type A1 (BDA1) is a rare, inherited difference in hand and foot development in which the middle bones (middle phalanges) of most or all fingers ...
Brachydactylous dwarfism, Mseleni type, is a very rare bone and joint disorder. “Brachydactylous” means the fingers and toes are short. “Dwarfism” means the ...
Congenital hypomyelination neuropathy with arthrogryposis is a rare nerve disease that starts before birth. “Congenital” means present at birth. ...
Boylan-Dew-Greco syndrome (BDGS) also called congenital hypomyelination neuropathy with arthrogryposis multiplex congenita is a very rare congenital (present ...
Bowenoid papulosis is a skin condition caused by infection with human papillomavirus (HPV), most often a high-risk type such as HPV-16. It shows up as one or ...
Bowen-Conradi Hutterite Syndrome is a very rare inherited condition that affects many parts of a baby’s body before birth and after birth. It belongs to a ...
Bowen-Hutterite syndrome is a very rare, inherited condition. It is most common in the Hutterite population of North America but can occur in any group. Babies ...
Bowen-Conradi syndrome (BCS) is a very rare, inherited condition that affects many parts of a baby’s body even before birth. Babies are usually very small in ...
Intraepidermal squamous cell carcinoma—Bowen’s type is an early skin cancer that sits only in the top layer of the skin (the epidermis). The cancer cells are ...
Intraepidermal squamous cell carcinoma (SCC in situ, Bowen disease) is an early, non-invasive skin cancer confined to the epidermis. Cells look malignant under ...
Bowen disease is an early skin cancer that stays in the top layer of the skin (the epidermis). Doctors also call it squamous cell carcinoma in situ (SCC in ...
Lame Sickness is a rare but dangerous illness. It happens when a nerve poison (toxin) made by Clostridium botulinum blocks signals from nerves to muscles. ...
Botulism is a rare but very serious illness caused by a nerve poison (botulinum neurotoxin) made by the bacterium Clostridium botulinum. The toxin blocks nerve ...
Botulism is a rare but very serious kind of food-, wound-, or gut-related poisoning. It happens when a nerve poison (called botulinum toxin) gets into your ...
Botulism is a rare but very serious poisoning of the nerves. It happens when a powerful toxin (poison) made by Clostridium botulinum and a few related bacteria ...
Botryoid-type embryonal rhabdomyosarcoma is a cancer that starts from very early cells that can grow into skeletal muscle. “Botryoid” means “grape-like.” These ...
Syndromic X-linked intellectual disability, Börjeson–Forssman–Lehmann type (BFLS) is a rare, inherited condition that mainly affects the brain, hormones, ...
Intellectual disability–epilepsy–endocrine disorders syndrome (IDEES) means a person has three things together: Intellectual disability (ID): learning ...
Intellectual disability-epilepsy-endocrine disorders syndrome (BFLS) is a rare, inherited condition that mainly affects boys and sometimes girls. Children ...
Börjeson-Forssman-Lehmann syndrome—short name BFLS—is a rare genetic condition that mainly affects learning, growth, hormones, and body shape. It happens when ...
An ovarian low malignant potential tumor—also called a borderline ovarian tumor—is a growth that starts from the surface lining (epithelium) of the ovary. It ...
Low malignant potential (LMP) ovarian tumor (also called a borderline ovarian tumor) is a growth that looks abnormal under the microscope but does not behave ...
A Epithelial tumor of the ovary of borderline malignancy (also called a “tumor of low malignant potential”) is an epithelial ovarian growth that shows abnormal ...
A Epithelial Ovarian Tumor of Borderline Malignancy is a growth that starts from the surface lining (epithelium) of the ovary. The cells look more abnormal ...
A borderline ovarian surface epithelial-stromal tumour is a growth that starts in the surface lining cells of the ovary. The cells multiply more than normal ...
A borderline ovarian epithelial tumour is an abnormal growth that starts in the thin surface layer of the ovary. Doctors call that layer the “epithelium.” The ...
A borderline epithelial tumor of the ovary is a growth that starts from the surface-lining cells (epithelium) of the ovary. It is not a simple benign cyst, but ...
Boomerang dysplasia is a very rare, severe skeletal disorder that affects how a baby’s bones and cartilage form before birth. The name comes from the shape of ...
Encephalopathy–Intracerebral Calcification–Retinal Degeneration Syndrome is a rare group of disorders where the brain and the eyes are both affected. ...
Bonnemann–Meinecke–Reich syndrome is an ultra-rare condition with multiple birth anomalies and early brain dysfunction. It typically shows up in the first year ...
Primary osteosarcoma is a cancer that starts in the bone itself. The tumor cells are abnormal bone-forming cells. They make a disorganized, immature bone ...
Osteogenic sarcoma, also called osteosarcoma, is a cancer that starts in bone-forming cells. These cancer cells make immature bone (“osteoid”) inside the ...
Osteosarcoma is a cancer that starts in the bone-making cells. These cells normally build the hard mineral part of bone. In osteosarcoma they grow out of ...
Connective tissue disorder due to lysyl hydroxylase-3 deficiency (PLOD3-related disorder) is a rare genetic disease that affects the body’s collagen—the ...
Bone fragility-contractures-arterial rupture-hearing loss syndrome/BCARD syndrome is a very rare, inherited connective-tissue disease. “Connective tissue” is ...
Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome is a very rare, inherited connective-tissue disease. It happens when both copies of the ...
Bone abnormalities is a problem with how bones are built, shaped, or strengthened. The problem can be present from birth (genetic) or can happen later. Bones ...
Bone fragility with contractures, arterial rupture, and deafness (BCARD) is a rare, inherited connective-tissue disorder. The body’s collagen—the protein that ...
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis (RFIE) type” is a very rare, severe bone-growth disorder seen in newborns and ...
Autosomal recessive lethal chondrodysplasia, round femoral inferior epiphysis type is a severe genetic disorder that affects how bones grow before and after ...
Bone dysplasia, lethal Holmgren type is a very rare, inherited disorder that affects how a baby’s bones grow before birth. The main problems are very short ...
Machupo hemorrhagic fever is a severe viral illness that affects the whole body. The virus is called Machupo virus, an arenavirus. People usually get infected ...
Bolivian hemorrhagic fever is a severe viral illness that happens in parts of Bolivia. The virus that causes it is called Machupo virus. This virus belongs to ...
Opitz trigonocephaly-like syndrome describes a rare group of genetic conditions where a baby is born with a triangular forehead from early fusion of the ...
Oberklaid–Danks syndrome, which is the original/alternate name for Bohring–Opitz syndrome (BOS)—a very rare genetic condition first separated from “Opitz ...
BOS syndrome—a very rare genetic (present at birth) condition, most often caused by new (de novo) changes in the ASXL1 gene. Children have a recognizable ...
Bohring-Opitz syndrome is a very rare genetic condition caused most often by a new (not inherited) change in the ASXL1 gene. Babies usually have trouble ...
Pseudoxanthoma Elasticum-Like Syndrome (PXE-Like Syndrome) is a rare inherited skin and connective-tissue condition that looks very similar to classic ...
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency is a very rare inherited skin and blood-clotting disorder. The skin over the ...
Genuine diffuse phlebectasia is a rare venous malformation. “Phlebectasia” means abnormally enlarged veins. In this condition, the enlargement is diffuse ...
Bockenheimer syndrome—also called Bockenheimer disease or genuine diffuse phlebectasia—is a rare vascular anomaly in which most of the length of one limb (arm ...
Tritanomaly is a blue–yellow color vision deficiency. Your eye has three kinds of cone cells to see color: red-sensing (L), green-sensing (M), and blue-sensing ...
A tritan defect is a problem with seeing and separating colors along the blue–yellow line. It happens when the short-wavelength (S) cones in the retina do not ...
Tritan colour blindness is a problem with telling blue from green and yellow from violet. In this condition, the short-wavelength cone cells in the retina ...
Tritan color blindness is a problem with seeing blue and yellow correctly. It happens when the S-cones (short-wavelength cones) in the retina—or the ...
Dyschromatopsia means a problem seeing or telling colors apart. Colors may look faded, washed-out, wrong, or all very similar. Some people are born with it ...
Congenital tritanopia is a very rare, inherited color-vision condition. People with tritanopia cannot see blue and yellow in the normal way. The problem sits ...
A blue/yellow color vision defect means the eye and brain have trouble telling blue from green and yellow from violet. In the classic form (called “tritan”), ...
Blue-yellow dyschromatopsia is a problem in seeing or separating blue from yellow hues. In the inherited form, the short-wavelength (blue-sensing) cone cells ...
Blue color blindness is a problem with seeing short-wavelength (“blue”) light accurately. It happens when the S-cones (the blue-sensitive cone cells in the ...
Congenital telangiectatic erythema is an inherited disorder that starts at birth and involves the skin, growth, the immune system, the endocrine system, and ...
Bloom–Torre–Machacek syndrome is a rare, inherited condition. It affects growth, skin, the immune system, and cancer risk. Children are small at birth. They ...
Bloom syndrome is a very rare inherited condition that makes a person’s DNA less stable than usual. DNA is the instruction code in every cell. In Bloom ...
Blindness–Scoliosis–Arachnodactyly syndrome is a very rare genetic condition that mainly affects the eyes and the skeleton. People develop progressive vision ...
Meige dystonia is a movement disorder that affects the face. It mainly causes strong, repeated spasms of the eyelid muscles (called blepharospasm). It also ...
Meige syndrome is a neurological movement disorder that affects the face. It happens when two problems occur together: (1) blepharospasm—involuntary blinking ...
Blepharospasm-oromandibular dystonia syndrome is a neurological movement disorder where certain face and jaw muscles contract by themselves. People have ...
Blepharoptosis-Myopia-Ectopia Lentis syndrome is a very rare, inherited eye problem. BMEL is a very rare genetic eye condition seen at birth. People have three ...
Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome (BPES) is a rare condition that affects the eyelids from birth. The eye openings are narrow from side to ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition present from birth. It changes how the upper eyelids and the inner corners of ...
Frydman-Cohen-Karmon syndrome (FCKS) is an extremely rare, inherited condition. Frydman-Cohen-Karmon syndrome” is the eponym used in the original 1992 case ...
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome (also called Frydman-Cohen-Karmon syndrome). It’s an ultra-rare genetic condition reported ...
Blepharophimosis–intellectual disability syndrome, Verloes type is a very rare genetic syndrome. Children are born with narrow eye openings (blepharophimosis) ...
Young–Simpson syndrome (often grouped under the KAT6B-related disorders) is a rare genetic condition present from birth. It affects how the face, brain, ...
