Russell Silver Syndrome
Overview Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition […]
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PURA Syndrome
PURA syndrome is a rare genetic disorder. The PURA gene is located on chromosome 5\’s long arm (at position 5q31.2).
Grayson’s Syndrome
Grayson\’s Syndrome is a mitochondrial disorder that is highly uncommon. This illness, also known as Grayson Wilbrandt corneal dystrophy (GWCD),
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Klippel Trenaunay syndrome
Overview The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels.
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Olmsted Syndrome
Overview Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by
XXYY Syndrome
XXYY syndrome is a chromosomal disorder defined by the presence of an extra X and Y chromosome in men and
McCune Albright Syndrome
What is McCune Albright Syndrome? McCune Albright syndrome is a genetic disorder characterized by abnormal deposits of scar-like or fibrous
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