Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1. It is among the rarest genetic disorders in the world as currently it has only 266 […]
List of articles in "Disease" category - Page 306
Acrodynia
Acrodynia refers to a condition of pain and dusky pink discoloration in the hands and feet most often seen in children chronically exposed to heavy metals especially mercury.The word is […]
Shwartzman phenomenon
Shwartzman phenomenon also known as Shwartzman reaction is a rare reaction of a body to particular types of toxins called endotoxins which cause thrombosis in the affected tissue. A clearing […]
Holt–Oram syndrome
Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial […]
Abruzzo–Erickson syndrome
Some characteristics of Abruzzo–Erickson syndrome include deafness protruding ears coloboma a cleft palate or palatal rugosity and short stature.It was characterized in 1977.
AREDYLD syndrome
AREDYLD stands for acral renal ectodermal dysplasia lipoatrophic diabetes. AREDLYD is categorized as a rare disease meaning it affects fewer than 200000 people in the American population at any given […]
Alpha-thalassemia mental retardation syndrome
Alpha-thalassemia mental retardation syndrome (ATRX) also called alpha-thalassemia X-linked mental retardation nondeletion type or ATR-X syndrome is a condition caused by a mutated gene. Females with this mutated gene have […]
Carotid artery dissection
Carotid artery dissection is a separation of the layers of the artery wall supplying oxygen-bearing blood to the head and brain and is the most common cause of stroke in […]
Cavernous sinus thrombosis
Cavernous sinus thrombosis (CST) is the formation of blood clot within the cavernous sinus a cavity at the base of the brain which drains deoxygenated blood from the brain back […]
Prurigo nodularis
Prurigo nodularis (PN) is a skin disease characterised by pruritic (itchy) nodules which usually appear on the arms or legs. Patients often present with multiple excoriated lesions caused by scratching. […]