by CheckRare Staff | May 4, 2020
CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...
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...
