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…
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…
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,…
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,…
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…
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…
cafe au lait (with MR, it's McCune Albright)
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…
What Causes Cystic Fibrosis? Symptoms, Diagnosis, and Treatment.
Introduction Cystic Fibrosis (CF) is an autosomal recessive (AR) disorder that mainly affects the lungs and pancreas by increased production of thick secretions. The word ‘Cyst’ means fluid-filled sacs and…