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…
DISEASE X
Disease X is a placeholder term that was used by the World Health Organization (WHO) in February 2018 for their shortlist of high priority illnesses to symbolize a hypothetical, unidentified…
EGPA disease
Overview Formerly known as Churg-Strauss syndrome, EGPA disease (eosinophilic granulomatosis with polyangiitis) is now recognized as EGPA disease. It is a sort of inflammation of tiny to medium-sized blood vessels,…
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,…
MALS Syndrome
Overview The median arcuate ligament syndrome, MALS (also known as celiac artery compression syndrome) is a rare disorder characterized by postprandial stomach discomfort, accidental weight loss, and an epigastric bruit.…
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…
Purple Urine Bag Syndrome
Overview of purple urine bag syndrome Purple urine bag syndrome (PUBS) is a complication of urinary tract infections (UTIs) characterized by the discoloration of catheter bags and tubing. It is…
All About Eczema (Dermatitis) – Symptoms, Diagnosis, Treatment
Overview of Eczema ‘Eczema’ is a very commonly known skin condition. It is a Greek word. The meaning of eczema is ‘to boil’. Many people use the word eczema to…
Menkes Disease (Learn in 5 minutes)
Overview of Menkes disease A faulty ATP7A gene causes Menkes disease, a hereditary genetic disorder. Menkes syndrome causes copper absorption deficiency. This results in arterial changes and degeneration of the…
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…
Brittle bone disorder
Overview Brittle bone disorder results in bones that are weak and shatter readily. It typically manifests at birth, however it has only been documented in children with a family history…
Huntington’s Disease (Learn in 5 minutes)
Overview of Huntington's disease Huntington's disease is an inherited condition. It is transmitted from parents to offspring. If a parent has Huntington's disease, there is a 50% risk that the…
Osteoporosis – Symptoms, risk factors, fracture prevention, and pain control
Osteoporosis is a condition characterized by the degeneration and weakness of bone tissue. Over time, osteoporosis might progress. This can lead the bone to become progressively porous and more brittle…