Spinocerebellar ataxia (SCA) is a genetically inherited disorder characterized by abnormalities in brain functioning.
Maple syrup urine disease (MSUD) is a form of metabolic disorder that is passed down through families.
Glutaric Acidemia (GA2) is a form of autosomal recessive disorder both of the affected persons parents must be carriers of the disorder.
Thanatophoric dysplasia occurs in approximately one in every 20 to 50 thousand newborns.
Fibrodysplasia ossificans progressiva (FOP) is where muscle and connective tissues are slowly replaced by bone referred to as ossification.
Adrenoleukodystrophy (ALD) or Schilder-Addision Disease involves closely-related inherited disorders that disrupt breakdown of fats in the body.
Zellweger syndrome is one of a group of four diseases related and referred to as peroxisome biogenesis disorders.
Symptoms of Subacute Sclerosing Panencephalitis SSPE include changes in behavior and mild mental deterioration such as memory loss.
Niemann-Pick Disease is one of a group of lysosome storage disease that affect the metabolism caused by mutations in the genes.
Hirayama's disease, also referred to as Monomelic amyotrophy, MMS, Sobue disease or Juvenile non-progressive amyotrophy.
Retinoblastoma is a form of childhood cancer that starts from immature retinal cells in one or both of the persons eyes.
Sanfilippo syndrome is a form of inherited disease involving a persons metabolism.
Wolman disease is a form of rare and inherited condition that involves the breakdown and use of cholesterol and fats in the body.
Cri du chat is one of the most common syndromes caused by chromosomal deletion affecting between one in twenty-thousand and one in fifty-thousand children.
Infants with Tay-Sachs disease seem to develop as usual during the first few months of their lives.
Leighs disease is a form of rare inherited neuro-metabolic disorder that affects a persons central nervous system.
Patau syndrome is a genetic disorder in which a persons chromosome thirteen appears three times instead of twice.
Edwards Syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome.
Degos disease is a very rare form of illness that was first described by Kohlmeier in the year 1941 and documented as a distinct form of illness.
Batten disease is a form of fatal inherited disorder that affects a persons nervous system.
Alstrom syndrome is a form of rare genetic disease that affects several parts of a persons body.
Prader-Willi Syndrome (PWS) involves a disorder of chromosome 15, the disorder affects approximately one out of every twelve to fifteen thousand people from both sexes and all races.
Treatment of congenital adrenal hyperplasia includes monitored hormone replacement therapy and a lifetime of daily medication.
Marfan syndrome is an inherited condition which affects a person's connective tissues.
Fanconis Anemia (FA) is a rare form of recessive inherited blood disorder.
Whipples disease involves a rare form of bacterial infection that primarily affects a persons small intestine.
Otitis media is inflammation or infection of the middle ear that often starts after a cold,sore throat or other form of breathing or respiratory problem spreads to the middle ear.
Information on aortic stenosis a disease a person may experience from birth or later on in life.
Turner syndrome chromosomal condition describes women and girls with features caused by a partial or complete absence of second sex chromosome.
Alport syndrome is a form of genetic disease involving a mutation that affects a persons ears eyes and kidneys.
Diphtheria is a bacterial infection that happens quickly and spreads easily affecting a persons throat and nose.
Bells palsy is a type of facial paralysis the result of either trauma or damage to one or two of a persons facial nerves.
Spinal muscular atrophy types belong to hereditary diseases that cause weakness and wasting of voluntary muscles in arms and legs of children.