Maeda syndrome is another name for CARASIL, a very rare inherited small-vessel disease of the brain. It damages the tiny arteries deep inside the brain, ...

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare, inherited disease that damages the brain’s ...

CARASIL stands for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.It is a rare genetic small-vessel disease of the ...

Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is a genetic condition that causes two main kinds of blood-vessel changes. First, many ...

Parkes Weber syndrome (PWS) is a rare condition present from birth where abnormal fast-flow connections form between arteries and veins (arteriovenous fistulas ...

Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with ...

Systemic capillary leak syndrome is a rare condition where tiny blood vessels (capillaries) suddenly become very leaky. Fluid and proteins that should stay ...

Idiopathic capillary leak syndrome is a very rare condition where tiny blood vessels (capillaries) suddenly become “leaky.” During an attack, fluid and ...

Clarkson disease is a very rare disorder where fluid and proteins suddenly leak out of tiny blood vessels (capillaries) into the body’s tissues. During an ...

Capillary hyperpermeability syndrome means the tiny blood vessels (capillaries) suddenly become “too leaky.” When they leak, protein-rich plasma leaves the ...

Capillary Leak Syndrome means fluid and proteins leak out of very small blood vessels (capillaries). The fluid moves into the tissues. Blood volume in the ...

Cap skeletal myopathy is a rare, inherited muscle disease that mainly affects the body’s skeletal muscles—the muscles we use to move. Under the microscope, ...

Cap myopathy (also called cap disease or congenital myopathy with caps) is a rare inherited muscle condition. In this disorder, skeletal muscles (the muscles ...

Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome is a rare, long-lasting, ...

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome is a rare, long-lasting autoimmune nerve disease. ...

CANDA syndrome—short for Chronic Ataxic Neuropathy with anti-Disialosyl antibodies. It belongs to the same family as CANOMAD (Chronic Ataxic Neuropathy with ...

CANOMAD is a rare, chronic, immune-mediated nerve disorder. The full name summarizes its key features: Chronic Ataxic Neuropathy with Ophthalmoplegia ...

Acute gangrenous stomatitis is a very fast-moving infection that destroys the mouth and face. It usually begins as sore, bleeding gums, then the tissues of the ...

Spongy degeneration of white matter in infancy is a rare, inherited brain disorder in which the white matter—the insulation that helps brain cells send fast, ...

Spongy degeneration of the brain means the brain’s white matter (the wiring that carries messages) develops many tiny fluid-filled holes and becomes soft and ...

Spongiform leucodystrophy is a rare brain disease. It mainly affects babies and young children. “Leuco-” means white, and “dystrophy” means damage or poor ...

Canavan disease is a rare, inherited brain disorder in which the white matter (the “insulation” around nerve fibers called myelin) is damaged and does not ...

Aspartoacylase deficiency is a rare, inherited brain disorder in which a single enzyme—called aspartoacylase (ASPA)—does not work properly. This enzyme ...

Aminoacylase-2 deficiency—the condition better known today as Canavan disease (aspartoacylase deficiency) is a rare, inherited brain disease. Doctors now call ...

Canavan disease is a rare, inherited brain disorder. It belongs to a group of white-matter diseases called leukodystrophies. In Canavan disease, a gene problem ...

Camptomelic syndrome, long-limb type is a rare genetic condition that changes how the skeleton, airway, and some other organs form before birth. The classic ...

Rozin Camptodactyly Syndrome is an extremely rare, multi-system birth condition. Children are born with camptodactyly (fingers stuck in a bent position), other ...

Camptodactyly-joint contractures-facial skeletal defects syndrome is a very rare, congenital (present at birth) syndrome. Children have bent fingers that ...

Camptodactyly, myopia, and fibrosis of the medial rectus muscle of the eye is a very rare congenital (present at birth) syndrome. People who have it usually ...

Familial streblodactyly with amino-aciduria is a very rare genetic condition that tends to run in families. The finger joints—usually the little fingers—bend ...

Camptodactyly–taurinuria syndrome is a very rare, inherited condition that has two main features seen together in the same person: a permanent bend in ...

Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome (CATSHL syndrome) is a very rare genetic condition in which four main features tend to occur together: ...

Camptodactyly–Tall Stature–Scoliosis–Hearing Loss syndrome is a very rare genetic condition. People with this syndrome usually have four main features: (1) ...

Arthropathy-camptodactyly (CACP) syndrome is a rare inherited condition where children are born with or soon develop bent fingers (camptodactyly), large ...

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) syndrome is a rare genetic condition that begins in childhood and combines four main problems: bent ...

Goodman camptodactyly is a very rare genetic syndrome in which people have bent fingers (camptodactyly) together with other body features, such as special ...

Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia describes a rare, congenital (present at birth) combination of problems: a progressive ...

Camptodactyly means a finger (usually the little finger) is stuck in a bent position at the middle (PIP) joint from birth or early childhood. In “camptodactyly ...

Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic disorder in which the fingers are bent and cannot fully straighten (camptodactyly), together ...

Camptodactyly syndrome, Guadalajara type 2 is a very rare condition present at birth. Children are small for age, both before and after birth. They often have ...

Camptodactyly syndrome, Guadalajara type 1 (often shortened to “Guadalajara type 1”) is a very rare, inherited condition in which a child is born with fingers ...

Camptodactyly means a finger that stays bent at the middle joint (the proximal interphalangeal, or PIP joint) and cannot fully straighten on its own. It is ...

Camptobrachydactyly is a very rare condition in which people have short fingers or toes (brachydactyly) together with fixed bending (flexion contractures) of ...

Campomelic dwarfism syndrome is a rare genetic condition that mainly affects the skeleton, breathing system, and sexual development. The word “campomelic” ...

Campomelic dysplasia (CD) is a rare, genetic condition that affects the bones, the face, the airway, and the sex-development system. Babies are born with short ...

Campomelia, Cumming type is a very rare genetic condition in which a baby has bowed or curved long bones in all four limbs (tetramelic campomelia) together ...

Spinocerebellar Ataxia, Autosomal Recessive 5 is a very rare, inherited brain disorder that mainly damages the cerebellum (the balance and coordination ...

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome is a rare, inherited brain-development disorder. Children are born with ...

CAMOS syndrome is a very rare genetic condition. The name comes from its main signs: Cerebellar Ataxia, Mental (intellectual) disability, Optic atrophy, and ...

Familial doughnut lesions of the skull are round, ring-like spots in the skull bones that look like a “doughnut” on X-rays. Many affected people also have weak ...

Doughnut lesion of the calvaria and bone fragility syndrome is a rare, inherited bone disease. It causes ring-shaped, sclerotic spots in the skull bones that ...

Calvarial doughnut lesions with bone fragility, with or without spondylometaphyseal dysplasia (CDL/CDLSMD) is a genetic bone disease. People are born with a ...

Calvarial doughnut lesions–bone fragility syndrome is a rare, inherited bone disease. Bones break easily from childhood. The skull shows small round ...

Calciphylaxis is a rare but very serious disease of small blood vessels in the skin and fat. Calcium builds up in the walls of tiny arterioles. The vessels ...

Synostosis means two bones that should be separate have become joined by solid bone. This makes the joint between them disappear, so the bones act like one. ...

A calcaneonavicular coalition is an abnormal bridge between two foot bones: the calcaneus (heel bone) and the navicular (a small bone in the midfoot). In most ...

Calabro syndrome is a very rare birth condition. Babies are born with a combination of features that often include: the skull bones close too early ...

“NF type 6” (older name) or café-au-lait spots syndrome / familial isolated café-au-lait macules is a skin-only condition. People have several flat, ...

Multiple Flat Light-Brown Marks on Skin are harmless areas of increased skin pigment (melanin) that look like smooth-edged, flat, light-brown patches. They can ...

Multiple birthmarks means a person has more than one mark on the skin that was present at birth or appeared in the first years of life. Birthmarks can be ...

Familial isolated café-au-lait macules are flat, light- to dark-brown skin patches that run in families and appear without other signs of a syndrome. ...

Café-au-lait macules (CALMs) are flat, sharply bordered, light- to dark-brown skin patches caused by increased melanin in the epidermis. They are usually ...

Café-au-lait spots (CALMs) are flat, light- to dark-brown skin patches. They look like milk mixed with coffee. They can be round or oval. Edges are smooth or ...

Zellweger-like contiguous gene deletion syndrome is a very rare, inherited condition that affects newborns and young infants. It happens when a small stretch ...

Contiguous ABCD1–DXS1357E deletion syndrome (CADDS) is a very rare X-linked genetic condition in which a small piece of the X chromosome is missing at the band ...

CADDS stands for Contiguous ABCD1/DXS1357E deletion syndrome. It is a very rare, inherited condition caused by losing (deleting) two neighboring genes on the X ...

C1q nephropathy is a rare kidney disease. It affects the filters of the kidney called glomeruli. In this disease, the body’s immune system leaves a protein ...

C1q deficiency is a very rare inherited immune problem where the body makes too little—or none—of a protein called C1q. C1q is the “starter” of the classical ...

HIKESHI-related hypomyelinating leukodystrophy is a very rare, inherited brain white-matter disease. It happens when both copies of a gene called HIKESHI do ...

C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy is a rare genetic brain white-matter disease. “Hypomyelinating” means the brain does ...

C11orf73-related autosomal recessive hypomyelinating leukodystrophy is a rare brain white-matter disease that starts in infancy. In this condition, the fatty ...

Trigonocephaly C syndrome (often shortened to C syndrome or Opitz trigonocephaly syndrome / OTCS) is an ultra-rare genetic condition. The key sign is ...

Opitz trigonocephaly C syndrome is an ultra-rare genetic condition. Babies are born with a triangular-shaped forehead because the metopic suture (the seam in ...

Opitz C trigonocephaly, also called C syndrome or Opitz trigonocephaly syndrome, is a very rare genetic condition. The front seam of the skull (the metopic ...

C syndrome is also known as  Cronkhite–Canada syndrome is a rare disease of the gut in which many non-cancerous polyps grow throughout the stomach and ...