Parkes Weber syndrome (PWS) is a rare condition present from birth where abnormal fast-flow connections form between arteries and veins (arteriovenous fistulas ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
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 ...
