by CheckRare Staff | May 3, 2020
Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate. This sulfate is found in...
by CheckRare Staff | May 2, 2020
Other Names: Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; DiGeorge syndrome; Shprintzen syndrome; Sedlackova syndrome; CATCH22; Autosomal dominant Opitz G/BBB syndrome; Conotruncal anomaly face syndrome; Cayler cardiofacial syndrome. 22q11.2...
by CheckRare Staff | May 1, 2020
Beta-thalassemia is a blood disorder that reduces the body’s production of hemoglobin. Low levels of hemoglobin lead to a shortage of mature red blood cells and a lack of oxygen in the body. Affected people have anemia, which can cause paleness, weakness,...
by CheckRare Staff | May 1, 2020
Neonatal onset multisystem inflammatory disease (NOMID) is a rare disorder causing inflammation and tissue damage. The disease primarily affects the nervous system, skin, and joints. People with NOMID have a skin rash that is usually present from birth. The rash...
by CheckRare Staff | May 1, 2020
Cerebrotendinous xanthomatosis is a fat (lipid) storage disorder that affects many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in various areas of the...
