Top 10 genetic disorders


Angelman syndrome- a rare congenital disorder characterized by mental disability and a tendency toward jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.




Canavan disease-This is a disorder that is inherited by an offspring from his or her parent. The disease has an impact on the use and collapse of Aspartic Acid. The condition is also known by other names like Aspartoacylase Deficiency, Aminoacylase 2 deficiency, Canavan-Van Bogaert-Bertrand disease and Spongy degeneration of the brain.






Color blindness- color blindness occurs when you are unable to see colors in a normal way. Most commonly, color blindness (also known as color deficiency) happens when someone cannot distinguish between certain colors, usually between greens and reds, and occasionally blues.




Cri du chata- rare genetic disorder due to a missing part (deletion) chromosome 5. Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.




Cystic fibrosis-a hereditary disorder affecting the exocrine glands. It causes the production of abnormally thick mucus, leading to the blockage of the pancreatic ducts, intestines, and bronchi and often resulting in respiratory infection.




Down syndrome-a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21).




Duchenne muscular dystrophya- severe form of muscular dystrophy caused by a genetic defect and usually affecting boys.




Haemochromatosis-a hereditary disorder in which iron salts are deposited in the tissues, leading to liver damage, diabetes mellitus, and bronze discoloration of the skin.




Haemophilia-a medical condition in which the ability of the blood to clot is severely reduced, causing the sufferer to bleed severely from even a slight injury. The condition is typically caused by a hereditary lack of a coagulation factor, most often factor VIII.




Klinefelter syndrome-is a genetic disorder that affects males. occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males.



Neurofibromatosis-a disease in which neurofibromas form throughout the body. Also called von Recklinghausen's disease.