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Tag: genetic disease
Russell Silver Syndrome
Overview Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition to a variety of other physical traits and symptoms. The frequency is unclear, however it is thought to be between 1 in every 30,000 and 100,000 births. The broad range of phenotypic results varies in…
PURA Syndrome
PURA syndrome is a rare genetic disorder. The PURA gene is located on chromosome 5\’s long arm (at position 5q31.2). When one of a person\’s two copies of the PURA gene does not operate correctly, PURA syndrome arises. This can be the result of a misspelled gene or the loss of one copy of the…
Grayson’s Syndrome
Grayson\’s Syndrome is a mitochondrial disorder that is highly uncommon. This illness, also known as Grayson Wilbrandt corneal dystrophy (GWCD), is one of the most uncommon kinds of corneal dystrophy, an eye disease. It is caused by a lack of a chemical called NADPH in the body. This syndrome is defined by the presence of…
Klippel Trenaunay syndrome
Overview The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels. The syndrome is characterized by three features: a port-wine stain, aberrant overgrowth of soft tissues and bones, and abnormalities of the veins. This is not a curable disorder, however, therapies can assist with symptom management.…
Olmsted Syndrome
Overview Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by reddish skin and joint deformities that cause restriction and spontaneous amputation, as well as horny growths around the eyes and mouth, nail abnormalities, white thicker patches around the anus, and scanty hair. It is typically…
XXYY Syndrome
XXYY syndrome is a chromosomal disorder defined by the presence of an extra X and Y chromosome in men and is associated with medical and behavioral issues. XXYY is a form of Klinefelter syndrome at age 48. Inheritance The condition 48, XXYY is not inherited; it often arises by chance during the development of reproductive…
McCune Albright Syndrome
What is McCune Albright Syndrome? McCune Albright syndrome is a genetic disorder characterized by abnormal deposits of scar-like or fibrous tissue in bones and skin along with defects in endocrine (hormone-secreting) glands of the body. Cause of McCune Albright syndrome This disorder is caused by a mutation in the GNAS gene which codes for a…