Category: Genetics and Birth Defects
Noonan Syndrome is a hereditary disorder that hinders the normal body development. It involves rare heart defects, short stature, facial characteristics, slowed growth, bleeding problems, rib cage and bone malfunctions. Genetic mutation generates this disorder, and a baby inherits it from the parent’s affected gene …
What is Ehlers Danlos Syndrome? Ehlers Danlos syndrome or EDS is a group of disorders in the connective tissues that people inherit as a genetic characteristic. The mutation of …
Oligohydramnios Definition Oligohydramnios is a disorder that occurs in pregnancy and is characterized by an amniotic fluid deficiency. The fetuses with this condition have less than 500 ml of …
Hypomagnesemia Definition Hypomagnesemia is an electrolyte disturbance arising due to unusually low magnesium levels in the bloodstream . It is a congenital error. It is also known as: Hypomagnesaemia …
Alpha-Thalassemia is one of the two forms of the life threatening blood disease known as Thalassemia. Read on to know all about its various types, symptoms and possible treatment …
What is Alport Syndrome ? Alport Syndrome is a rare hereditary disease that causes glomerulonephritis, severe kidney damage and hearing loss. It may also affect the eyes, leading to …
What is Sezary Syndrome ? Sezary Syndrome, or Sezary disease, is defined as a more aggressive variant of a form of cancer known as cutaneous T-cell lymphoma (CTCL) that …
What is Cystinuria? Cystinuria is a type of inherited autosomal recessive metabolic disorder characterized by the formation and buildup of cystine stones or crystals in the kidneys, bladder and …
Sirenomelia is a serious medical problem that leads to fusion of the legs and feet due to skeletal and spinal malformation. Read and find out all about the various …
Are you having an underdeveloped outer ear that causes you problems in hearing? You might be suffering from a medical condition called Microtia. Read on to know more about …