Infantile Refsum Disease
Infantile Refsum disease is a rare, inherited disorder of peroxisome formation. Peroxisomes are tiny structures inside cells that process fats and detoxify harmful substances. In this condition, ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Neonatal adrenoleukodystrophy
Neonatal adrenoleukodystrophy (NALD) is a rare genetic disorder in newborns caused by a failure in the normal formation and function of peroxisomes—tiny structures inside cells that help break down ...
Zellweger Syndrome
Zellweger syndrome (ZS) is a rare, inherited disorder that affects the body’s ability to build and maintain peroxisomes—tiny structures within cells that break down certain fats and detoxify harmful ...
X-Linked Complicated Corpus Callosum Dysgenesis
X-linked complicated corpus callosum dysgenesis is a rare genetic condition that affects the way the corpus callosum—the wide band of nerve fibers connecting the left and right halves of the ...
X-linked Charcot–Marie–Tooth Diseases
X-linked Charcot–Marie–Tooth disease (often abbreviated CMTX) is a hereditary peripheral neuropathy that affects the insulating sheath (myelin) and the long fibers (axons) of nerves. It belongs to ...
Williams Syndrome (WS)
Williams syndrome (WS), also known as Williams–Beuren syndrome, is a rare genetic disorder caused by a microdeletion of about 25–27 genes on the long arm of chromosome 7 (7q11.23). This contiguous ...
Wernicke–Korsakoff Syndrome
Wernicke–Korsakoff syndrome is a serious brain disorder caused by a lack of thiamine (vitamin B1), which the body needs to convert sugar into energy for normal nerve and brain function. When thiamine ...
Adult Progeria (Werner Syndrome)
Adult progeria, formally known as Werner syndrome (WS), is a rare genetic disorder that causes the body’s cells to age much faster than normal. People with WS typically develop normally until ...
Werner Syndrome
Werner syndrome is a rare autosomal recessive genetic disorder marked by the early onset of features normally seen in later life. People with Werner syndrome carry two nonworking copies of the WRN ...
Superior Alternating Hemiplegia
Superior alternating hemiplegia, commonly known as Weber’s syndrome, is a rare brainstem stroke syndrome resulting from a lesion in the ventral midbrain. It is characterized by an ipsilateral ...
Weber’s Syndrome
Weber’s syndrome, also known as superior alternating hemiplegia or midbrain stroke syndrome, is a neurological condition caused by damage to the ventral portion of the midbrain. In this syndrome, a ...
Walker–Warburg Syndrome (WWS)
Walker–Warburg syndrome (WWS) is a rare, autosomal recessive congenital muscular dystrophy distinguished by severe abnormalities of the muscles, brain, and eyes. It represents the most extreme end of ...
TRPM3-Related Neurodevelopmental Disorder (TRPM3-NDD)
TRPM3-related neurodevelopmental disorder (TRPM3-NDD) is a rare monogenic condition caused by pathogenic variants in the TRPM3 gene. This disorder primarily affects brain development and function, ...
Triploid Syndrome
Triploid syndrome, also called triploidy, is a rare chromosomal disorder in which every cell of the body has three complete sets of chromosomes (69 total) instead of the normal two sets (46 total). ...
SYNGAP1-Related Intellectual Disability
SYNGAP1-related intellectual disability (SYNGAP1-ID) is a rare, monogenic neurodevelopmental disorder caused by loss-of-function changes in the SYNGAP1 gene.SYNGAP1-ID is marked by early ...
Susac’s Syndrome
Susac’s syndrome is a rare autoimmune disease characterized by an immune-mediated endotheliopathy affecting the smallest blood vessels in the brain, retina, and inner ear. In this condition, the ...
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