DeSanctis–Cacchione Syndrome
DeSanctis–Cacchione syndrome is a very rare genetic condition in which children inherit defective genes that normally repair skin cell DNA after ultraviolet (UV) damage. As a result, these children ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Dennie–Marfan Syndrome
Dennie–Marfan syndrome is a rare neurological complication observed in some infants and young children with congenital syphilis. It is characterized primarily by spastic paralysis of the lower limbs ...
Dejerine–Roussy Syndrome
Dejerine–Roussy syndrome, also known as thalamic pain syndrome, is a chronic pain condition that follows a lesion in the thalamus—often due to stroke. This injury disrupts normal sensory pathways, ...
Dandy–Walker Malformation
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome, is a rare congenital brain anomaly characterized by underdevelopment (agenesis or hypoplasia) of the cerebellar vermis, ...
Daentl–Townsend–Siegel Syndrome
Daentl–Townsend–Siegel syndrome (also known as Hydrocephalus-Blue Sclerae-Nephropathy syndrome or Familial nephrosis with hydrocephalus and thin skin) is an ultrarare, autosomal recessive genetic ...
D-Glycerate Dehydrogenase (PHGDH) Deficiency
D-Glycerate dehydrogenase deficiency—also known as 3-phosphoglycerate dehydrogenase (PHGDH) deficiency—is a rare autosomal recessive metabolic disorder in which the enzyme PHGDH is nonfunctional or ...
Cri du Chat Syndrome
Cri du chat syndrome—also called 5p deletion syndrome—is a rare genetic disorder caused by the loss (deletion) of a portion of the short arm (“p arm”) of chromosome 5. Its name, French for “cat’s ...
Congenital Myasthenic Syndrome
Congenital Myasthenic Syndrome (CMS) is a group of inherited disorders that disrupt communication between nerves and muscles at the neuromuscular junction. Unlike autoimmune myasthenia gravis, which ...
Clinically Isolated Syndrome
Clinically isolated syndrome (CIS) refers to a first neurological episode lasting at least 24 hours that suggests an inflammatory demyelinating event in the central nervous system, such as the optic ...
Claude’s Syndrome
Claude’s syndrome is a rare neurological condition caused by a lesion in the midbrain, most often due to a small infarction in the dorsomedial region supplied by a branch of the posterior cerebral ...
Chudley–Mccullough syndrome (CMS)
Chudley–McCullough syndrome is a very rare autosomal recessive genetic disorder characterized by early-onset severe to profound bilateral sensorineural hearing loss together with a constellation of ...
CDK13-Related Disorder
CDK13-related disorder is a rare, autosomal dominant genetic condition caused by heterozygous, de novo pathogenic variants in the CDK13 gene, which encodes cyclin-dependent kinase 13. This kinase ...
Chronic Cauda Equina Syndrome (CES)
Cauda equina syndrome (CES) is the name doctors give to any situation in which the bundle of nerve roots that hang from the end of the spinal cord—the cauda equina, or “horse’s tail”—is squeezed ...
Carpal Tunnel Syndrome
Carpal tunnel syndrome (CTS) is the most common nerve-entrapment disorder of the upper limb. It happens when the median nerve – the cable that carries feeling and muscle power to the thumb, index, ...
Brown-Vialetto-Van Laere syndrome (BVVL)
Brown-Vialetto-Van Laere syndrome (BVVL) is an ultra-rare, inherited nerve-degeneration disorder in which the tiny “delivery trucks” that normally carry vitamin B₂ (riboflavin) into nerve cells break ...
Brown-Séquard Syndrome
Brown-Séquard syndrome is an incomplete spinal-cord injury in which damage is largely confined to either the left or right half (a “hemisection”) of the cord. Because the major nerve highways cross ...
Bromism
Bromism is the toxic syndrome that develops when bromide ions build up in the body faster than the kidneys can remove them. In the late-19th and early-20th century bromide salts such as potassium ...
Brainstem Stroke Syndrome
A brainstem stroke happens when blood flow to the mid-brain, pons, or medulla is suddenly blocked by a clot or ruptured vessel. Because almost every nerve pathway between the brain and body passes ...
Börjeson–Forssman–Lehmann Syndrome (BFLS)
Börjeson–Forssman–Lehmann syndrome (often shortened to BFLS) is a rare, inherited neuro-endocrine condition marked by intellectual disability, distinctive facial appearance, truncal (central) ...
Bonnet–Dechaume–Blanc syndrome (BDBS)
Bonnet–Dechaume–Blanc syndrome (BDBS)—also called Wyburn-Mason syndrome—is an exceedingly rare, non-hereditary vascular disorder in which arteries link directly to veins without a capillary bed, ...
