Costamedic

A faulty ATP7A gene causes Menkes disease, a hereditary genetic disorder. Menkes syndrome causes copper absorption deficiency. This results in arterial

PUBS was discovered centuries ago when medics treating King George III for constipation saw his blue urine. Historically, this has been attributed to

Olmsted syndrome is an uncommon congenital palmoplantar keratoderma that is finely circumscribed and progressive. These lesions are accompanied by reddish

The Klippel Trenaunay syndrome is an uncommon congenital disorder characterized by abnormal formation of blood vessels and/or lymph vessels. The syndrome is

The median arcuate ligament syndrome, MALS (also known as celiac artery compression syndrome) is a rare disorder characterized by postprandial stomach

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

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

EGPA disease (eosinophilic granulomatosis with polyangiitis) is formerly known as Churg-Strauss syndrome. It is a form of inflammation of the medium to small size blood vessels.

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

Russell Silver Syndrome (RSS) is an uncommon condition characterized by fetal growth retardation and postnatal growth deficit, in addition to a variety of

Tricuspid atresia is a congenital malformation of the tricuspid valve, which regulates blood flow from the right atrium (upper right chamber of the heart) to

Mucus fishing syndrome (MFS) is a disorder in which mucus is frequently "fished" or pulled from the eye. Several eye disorders can cause the formation of

DSPS is a dysfunction of the time system of the body, or the biological clock. Individuals with DSPS may have an exceptionally lengthy circadian cycle, a

DBA is unusual. It affects around 5 to 7 newborns per million globally. Each year, around 40 children in the United States and Canada are newly diagnosed with

Toxic epidermal necrolysis (TEN syndrome) is a life-threatening skin condition that can cause acute skin failure. There is blistering and peeling of large

Harlequin ichthyosis is a severe hereditary skin condition. Infants born prematurely with this syndrome have extremely thick, rigid skin covering the majority