Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome is a rare, long-lasting autoimmune nerve disease. ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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 ...
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: ...
Goodman camptodactyly is a very rare genetic syndrome in which people have bent fingers (camptodactyly) together with other body features, such as special ...
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 ...
Calvarial doughnut lesions with bone fragility, with or without spondylometaphyseal dysplasia (CDL/CDLSMD) is a genetic bone disease. People are born with a ...
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 ...
