Russell Silver Syndrome
Overview Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition […]
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),
Klippel Trenaunay syndrome
Overview The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels.
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