Fragile X Syndrome

Other Names: Marker X syndrome; Martin-Bell syndrome; FRAXA syndrome; Fra(X) syndrome; FXS; X-linked mental retardation and macroorchidism Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and...

Menkes Disease

Other Names: Menkes syndrome; Steely hair disease; Menkea syndrome; Kinky hair disease; Copper transport disease Menkes disease is a disorder that affects copper levels in the body. It is characterized by sparse, kinky hair; failure to thrive; and progressive...

22q11.2 Deletion Syndrome

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...

Sickle Cell Anemia

Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is  is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body,...

Sanfilippo Syndrome (Mucopolysaccharidosis III)

Other Names: Mucopolysaccharidosis III; Mucopoly-saccharidosis type 3A; Sanfilippo syndrome A; Heparan sulfate sulfatase deficiency   Sanfilippo syndrome, or Mucopolysaccharidosis III (MPS-III) is a rare and progressive autosomal recessive lysosomal storage...

Batten Disease

Other Names: Neuronal ceroid lipofuscinosis, NCL Batten disease is a fatal, inherited disease of the nervous system that typically begins in childhood. Onset of symptoms is usually between 5 and 10 years of age, when parents or physicians may notice a child has begun...
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