Intracranial arteriovenous malformation is a problem in the blood vessels inside the brain where an artery connects directly to a vein without a normal tiny ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Cerebellar ataxia-ectodermal dysplasia syndrome is a very rare genetic condition that affects both the brain (especially the cerebellum) and ectodermal ...
Early plasmacytoid dendritic cell leukemia/lymphoma” is most often the same disease doctors now call blastic plasmacytoid dendritic cell neoplasm (BPDCN). It ...
Cayman type cerebellar ataxia (often shortened to “Cayman ataxia”) is a rare inherited brain development condition that starts from birth or very early ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Cerebral myiasis means fly larvae (maggots) infest tissue in or around the brain. It is extremely rare. In most reported cases, larvae get access through an ...
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 ...
Aminoacylase-2 deficiency—the condition better known today as Canavan disease (aspartoacylase deficiency) is a rare, inherited brain disease. Doctors now call ...
C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy is a rare genetic brain white-matter disease. “Hypomyelinating” means the brain does ...
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 ...
Birk-Barel syndrome is a very rare, inherited brain-development disorder caused by changes in a single gene called KCNK9. This gene makes a potassium “leak” ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Biotin-thiamine-responsive basal ganglia disease is a rare, inherited brain disorder. It damages deep movement-control centers in the brain called the basal ...
Biotin-responsive basal ganglia disease is a rare, inherited brain energy problem. It happens when brain cells cannot move enough thiamine (vitamin B1) into ...
Primary familial brain calcification (PFBC) is a rare, inherited brain condition. In PFBC, tiny hard deposits made of calcium form in certain deep areas of the ...
Cerebrovascular ferrocalcinosis means there is abnormal build-up of minerals—mainly calcium and often iron-related deposits—within the walls of small blood ...
Bilateral striopallidodentate calcinosis (BSPDC) is a rare brain condition where calcium-rich deposits build up on both sides of deep brain areas that control ...
Bilateral polymicrogyria is a problem in how the brain’s surface (the cortex) forms before birth. In PMG, the brain makes too many very small folds (gyri), and ...
