Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal Immunoglobulin M Protein, Cold Agglutinin and Disialosyl Antibody Syndrome is a rare, long-lasting, immune-mediated nerve disease. The immune ...
Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome is a rare, long-lasting autoimmune nerve disease. Your immune system makes a monoclonal IgM ...
CANDA syndrome—short for Chronic Ataxic Neuropathy with anti-Disialosyl antibodies. It belongs to the same family as CANOMAD (Chronic Ataxic Neuropathy with Ophthalmoplegia, IgM paraprotein, Cold ...
CANOMAD is a rare, chronic, immune-mediated nerve disorder. The full name summarizes its key features: Chronic Ataxic Neuropathy with Ophthalmoplegia (eye-movement weakness), an IgM monoclonal ...
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 stops the body from making a working ...
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 sign is bent long bones. In the long-limb ...
Rozin Camptodactyly Syndrome is an extremely rare, multi-system birth condition. Children are born with camptodactyly (fingers stuck in a bent position), other joint contractures, specific eye ...
Camptodactyly-joint contractures-facial skeletal defects syndrome is a very rare, congenital (present at birth) syndrome. Children have bent fingers that cannot fully straighten (camptodactyly). They ...
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 show a fixed bend of one or more fingers ...
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 and stay partially flexed ...
Camptodactyly–taurinuria syndrome is a very rare, inherited condition that has two main features seen together in the same person: a permanent bend in one or more fingers (called ...
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome (CATSHL syndrome) is a very rare genetic condition in which four main features tend to occur together: bent fingers or toes from birth ...
Goodman camptodactyly is a very rare genetic syndrome in which people have bent fingers (camptodactyly) together with other body features, such as special facial shape, head shape differences, and ...
Campomelic dwarfism syndrome is a rare genetic condition that mainly affects the skeleton, breathing system, and sexual development. The word “campomelic” means “bent limbs.” Babies are often born ...
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 and bowed long bones (especially in the ...
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 with multiple internal-organ differences ...
Spinocerebellar Ataxia, Autosomal Recessive 5 is a very rare, inherited brain disorder that mainly damages the cerebellum (the balance and coordination center). It is caused by harmful changes in the ...
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome is a rare, inherited brain-development disorder. Children are born with poor balance and coordination (congenital ...
CAMOS syndrome is a very rare genetic condition. The name comes from its main signs: Cerebellar Ataxia, Mental (intellectual) disability, Optic atrophy, and Skin abnormalities. Children are affected ...
Calvarial doughnut lesions with bone fragility, with or without spondylometaphyseal dysplasia (CDL/CDLSMD) is a genetic bone disease. People are born with a change (variant) in a bone gene. Because ...
