Cold Agglutinin Disease Cold agglutinin disease (CAD) is a form of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of “cold” autoantibodies, i.e. active at lower temperatures at 30°C. Synonyms CAD CASE Cold agglutinin syndrome Incidence How common is Cold Agglutinin Disease? 1-9 / 1,000,000 It would represent 16 to 32% of …
Idiopathic acute transverse myelitis A rare immune-mediated inflammatory demyelinating disorder of the spinal cord with motor, sensory and autonomic involvement. Epidemiology How common is this condition? Annual incidence is estimated at between 1/1,000,000 and 1/250,000 depending on the study. Onset may occur at any age and both sexes may be affected. What are the symptoms …
Treacher Collins Syndrome A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia) a very small low jaw (micrognathia) and downward-slanting palpebral fissures coloboma of the lower eyelids microtia hearing loss and without abnormalities of the extremities Intelligence is normal. Synonyms Franceschetti-Klein syndrome Mandibulofacial dysostosis without limb anomalies Incidence …
Ackerman syndrome Ackerman syndrome is an uncommon and under-recognised cause of arthritis with dermatitis. It is associated with various autoimmune conditions. The clinical and laboratory findings are mainly non-specific, and the most important diagnostic tool for this condition is a skin biopsy. A rare multiple congenital anomalies/dysmorphic syndrome characterized by a variable combination of dental, …
Achromatopsia A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function. Synonyms ACHM Complete or incomplete color blindness Pingelapese blindness Rod monochromacy Rod monochromatism Total color blindness Incidence How common is Achromatopsia 1-9 / 100000 The prevalence is estimated …
Acheiropodia An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone …
Acatalasemia A rare inborn error of metabolism characterized by a deficiency in erythrocyte catalase, an enzyme responsible for the breakdown of hydrogen peroxide. The disorder is usually asymptomatic but may be associated with oral ulcerations and gangrene, or diabetes mellitus and atherosclerosis in certain populations. Synonyms Catalase deficiency Incidence How common is Acatalasemia? 1-9 /100000 …