Mismatch Repair Cancer Syndrome
Mismatch repair cancer syndrome (MMRCS), also known as Turcot syndrome or constitutional mismatch repair-deficiency (CMMRD) syndrome when referring to biallelic mutations, is a rare inherited ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Millard–Gubler Syndrome
Millard–Gubler syndrome (MGS), also known as facial abducens hemiplegia syndrome or ventral pontine syndrome, is a rare crossed brainstem syndrome caused by a unilateral lesion in the basal portion ...
Microcephaly-Albinism-Digital Anomalies Syndrome
Microcephaly-Albinism-Digital Anomalies Syndrome (also called Castro Gago–Pombo–Novo syndrome) is an extremely rare, presumably autosomal-recessive condition in which three striking birth‐defect ...
Vasculitic Pure Motor Neuropathy
Vasculitic Pure Motor Neuropathy (V-PMN) is a rare but disabling nerve disorder caused by inflammation of the very small blood vessels (the vasa nervorum) that feed your motor nerves. Because those ...
Thyrotoxic Distal Neuropathy
Thyrotoxic distal neuropathy is a type of peripheral nerve injury caused or worsened by thyrotoxicosis—a state of excess circulating thyroid hormones (T₃ and T₄). Because nerve fibers in the feet and ...
Distal Motor Neuropathy
Distal motor neuropathy (DMN) is an umbrella term for a family of disorders in which the longest motor nerves in the body—those that control the small muscles of the feet, lower legs, hands and ...
Menkes Disease
Menkes disease—sometimes called “kinky hair syndrome”—is a rare, inherited disorder in which the body cannot move the mineral copper to the organs that desperately need it, such as the brain, bones, ...
Medial Pontine Syndrome
Medial pontine syndrome is a specific kind of brain-stem stroke that damages the inner (medial) part of the pons—an egg-shaped bridge of nerve tissue that sits between the mid-brain and medulla. The ...
Medial Medullary Syndrome
Medial medullary syndrome is a rare but striking kind of brain-stem stroke. It happens when blood flow through tiny branches of the vertebral or anterior spinal artery suddenly stops, starving the ...
McLeod Syndrome
McLeod Syndrome is a very rare, X-linked, multi-system disorder caused by loss-of-function variants in the XK gene. The defect removes the Kx transmembrane protein from red-blood-cell membranes, ...
MASA Syndrome
MASA syndrome is a rare, inherited neurological condition named for the four hallmark problems doctors first noticed: Mental retardation (now called intellectual disability), Aphasia (difficulty ...
Marden–Walker Syndrome
Marden–Walker syndrome is an extremely rare, inherited connective-tissue disorder first described in 1966 by physicians Marden and Walker. Only a few dozen families have been reported worldwide, so ...
Macrocephaly-Capillary Malformation
Macrocephaly-Capillary Malformation is a rare genetic over-growth condition in which a baby is born with, or quickly develops, an unusually large head (macrocephaly/megalencephaly) together with ...
Lennox–Gastaut Syndrome (LGS)
Lennox-Gastaut syndrome is a rare but very severe childhood-onset epilepsy that keeps affecting people throughout life. Doctors recognise it by a “triad”: (1) many different seizure types, especially ...
Bilateral Horizontal Gaze Palsy
Bilateral horizontal gaze palsy is a neurological condition in which a person loses the ability to move both eyes side to side (horizontally) in a coordinated fashion. In healthy individuals, ...
Lateral Spinothalamic Tract Infarct
The lateral spinothalamic tract is a crucial highway in your spinal cord that carries pain and temperature signals from your body to your brain. When this pathway suffers an interruption of blood ...
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