Mindblown: a blog about philosophy.
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Schilder disease
Schilder disease is a very serious progressive disorder characterized by the breakdown or loss of the myelin sheath surrounding nerve cells in the brain and nervous system in addition to the dysfunction of the adrenal gland. There are three forms of this rare genetic disorder: childhood adrenoleukodystrophy (ALD) in 35% of cases, adrenomyeloneuropathy (AMN) occurring…
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Sandhoff disease
Sandhoff disease is a rare, genetic, lipid storage disorder that results in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme hexosaminidase that results in the accumulation of certain fats (lipids) in the brain and other organs of the body (National Institute of Neurological Disorders and Stroke…
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Saethre-chotzen syndrome
Saethre-Chotzen syndrome is one variant in a group of rare disorders known as acrocephalosyndactyly. Saethre-Chotzen syndrome is a relatively mild form of acrocephalosyndactyly with a variable pattern of craniofacial, digital, and bone abnormalities. It is also known as acrocephalosyndactyly Type III (ACS III), Chotzen syndrome, and dysostosis craniofacialis with hypertelorism. Saethre-Chotzen syndrome is usually found…
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Russell-silver syndrome
Russell-Silver syndrome is a rare disorder characterized by retarded growth, asymmetry of the body and face, and a triangular face.
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Roussy-Levy syndrome
Roussy-Levy syndrome (RSL) is a movement disorder with onset in early childhood. The disorder was first identified in 1926. It is an autosomal dominant inherited degenerative disease of the central nervous system characterized predominantly by ataxia, high arched feet, and areflexia; it is eventually associated with distal muscle atrophy, postural tremor, and minor sensory loss.…
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Rothmund-Thomson syndrome
Rothmund-Thomson syndrome (RTS) is a rare, heritable disorder of the skin and skin derivatives (hair and nails). Approximately 50% of affected individuals will also develop cataracts during the first decade of life. Within the realm of medical conditions, there exists a rare disorder distinguished by certain defining features. These include a diminished stature, premature hair…
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Romano ward syndrome
Romano Ward syndrome is one variety in a group of genetic heart disorders known as long QT syndrome. Romano Ward syndrome is the most common form of long QT syndrome (it accounts for approximately 60%). The QT interval refers to a quantity measured on the electrocardiogram (ECG). The duration of the QT interval is a…
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Robinow syndrome
Robinow syndrome is a genetic disorder that is often called fetal face syndrome due to the characteristic facial appearance resembling that of a fetus of about 8 weeks gestation. Mesomelic dwarfism, hypoplastic genitalia, and dental abnormalities also characterize the disorder.
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Rieger syndrome
Rieger syndrome is an autosomal dominant gene disorder characterized by eye anomalies associated with glaucoma, mild craniofacial abnormalities, and absence or malformation of teeth.
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Hypophosphatemic rickets
Hypophosphatemic rickets is a disorder that affects the normal growth and repair process of bones. The disorder was previously called vitamin D resistant because rickets persisted despite sufficient intake of vitamin D. However, the term was limiting because there also appears to be a disruption in the mineralization of calcium, phosphorus, and alkaline phosphatase. Most…
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