Smith–Lemli–Opitz syndrome (SLOS) is a rare inherited disorder of cholesterol metabolism that presents at birth with a wide spectrum of physical malformations, ...
Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
Skraban–Deardorff syndrome (also known as WDR26-related disorder or Intellectual Disability with Seizures, Abnormal Gait, and Distinctive Facial Features) is a ...
Hereditary Sensory and Autonomic Neuropathies (HSAN) are a group of rare, inherited disorders characterized by progressive dysfunction of sensory and autonomic ...
Infectious ganglionopathy is a medical condition characterized by inflammation and dysfunction of sensory or autonomic ganglia—the clusters of nerve cell ...
Autoimmune (non-paraneoplastic) ganglionopathy is a rare neurological disorder in which the body’s immune system mistakenly targets and damages the autonomic ...
Paraneoplastic ganglionopathy is a rare neurological disorder in which the body’s immune response against a hidden (occult) cancer mistakenly attacks the ...
Autonomic ganglionopathy is a rare disorder affecting the autonomic nervous system (ANS), specifically targeting the autonomic ganglia—clusters of nerve cells ...
Chronic Ataxic Neuropathy with Disialosyl Antibodies (CANDA) is a rare, immune-mediated peripheral neuropathy characterized by progressive problems with ...
CANOMAD syndrome is a rare, chronic immune-mediated demyelinating polyneuropathy. The name “CANOMAD” is an acronym for Chronic Ataxic Neuropathy, ...
Ganglionopathy, also known as neuronopathy, is a group of disorders characterized by the primary degeneration or dysfunction of neuronal cell bodies located in ...
Mitochondrial SANDO Syndrome—short for Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis—is a very rare, adult-onset mitochondrial disorder. It ...
Chronic Inherited Sensory Ataxic Neuropathy is a group of long-term genetic disorders in which the sensory nerves—those that carry information about touch, ...
Sensory ataxic neuropathy is a disorder in which damage to sensory nerves—particularly the large myelinated fibers responsible for proprioception—disrupts the ...
Schimmelpenning‐Feuerstein‐Mims syndrome is a rare, congenital neurocutaneous disorder characterized by the presence of sebaceous nevi—hamartomatous skin ...
Linear nevus sebaceous syndrome (LNSS), also known as Schimmelpenning syndrome, is a rare congenital condition characterized by a distinctive, hairless, ...
Schimmelpenning syndrome (also known as linear nevus sebaceous syndrome or Schimmelpenning‐Feuerstein‐Mims syndrome) is a rare, congenital neurocutaneous ...
Rett syndrome is a rare genetic disorder that primarily affects girls. In early infancy (the first 6–18 months), development appears normal. After this period, ...
Ramsay Hunt syndrome type 2—also known as herpes zoster oticus—is a neurological disorder caused by reactivation of the varicella-zoster virus (VZV) in the ...
Artisan’s Palsy is a type of occupational neuropathy affecting the deep palmar branch of the ulnar nerve at the wrist. It is also known as Ramsay Hunt syndrome ...
Dentatorubral–pallidoluysian atrophy (DRPLA), often called Dentatorubral Degeneration, is a rare, inherited neurodegenerative disorder characterized by ...
