Rare genetic disorders in humans

RARE GENETIC DISORDERS IN HUMANS Angleman Syndrome: Achondroplasia: It's a complex genetic disorder that mainly affects the nervous system in humans. Every year, this syndrome affects 1 out of every 12,000 to 20,000 people. Over 70% of patients suffer by this syndrome due to deletion of maternal chromosome 15 gene. Achondroplasia is a genetic and inherited medical condition that primarily results in short stature of the individual. This short-limbed dwarfism usually occurs in 1 out of every 15,000 to 40,000 newborns. Reports show that over 80% of individuals with Achondroplasia will have small-sized parents. Achromatopsia: Alzhiemer's disease: A degenerative disease that affects brain system and causes dementia, memory loss thereby making it difficult to carryout daily activities. In United States, currently 2.4 million to 4.5 million individuals An autosomal congenital recessive disorder that results in visual acuity loss, color blindness and nystagmus. The disorder is of two types: complete achromatopsia and partial achromatopsia. Statistics depict that in United States out of 33,000 people, 1 individual suffers from Achromatopsia. are affected by Alzheimer's disease. The survival rate of patients is very less and affected patients may live for utmost 8 to 10 years. Down Syndrome: Albinism: A chromosomal genetic disorder that affects the intellectual capability, facial appearance and muscle tone in infants. Reports show that among 700 newborns, 1 suffers from Down A genetic condition that occurs due to low production of melanin and absence of color pigment in skin and eyes. Albinism is of 4 types: Type 1 (OoCA1), Type 2 (OCA1), Type 3 (OCA1) and Type 4 (OCA4). It is estimated that 1 in every 20,000 people is born with syndrome. Gradual decline of thinking ability among the individuals with Down syndrome starts at an age of 50 years. albinism. Cystic Fibrosis: Bloom Syndrome: An inherited disease that secretes a sticky mucus which in turn affects the lungs, liver, Pancreas and sex organs. A degenerative disease that affects brain system and causes dementia, memory loss thereby making it difficult to carryout daily activities. In United States, currently 2.4 million to 4.5 million individuals Every year in United States, 1 child suffers from Cystic fibrosis out of 2,500 Caucasian newborns. The disease is often referred as CF, mucoviscidosis and cystic are affected by Alzheimer's disease. The survival rate of patients is very less and affected patients may live for utmost 8 to 10 years. fibrosis of Pancreas. Krabbe Disease: Рогphyria: A rare degenertiave disease caused due to deficiency of galactosylceramidase enzyme. In United States, 1 in every 10,000 people is affected and in few isolated communities of Israel, 6 per 1,000 people were It is of 3 types: acute porphyria, cutaneous porphyria and erythropoeitic porphyria. The prevalence of disorder ranges from 1 in every 500 to 50,000 people across the world. reported suffering from Krabbe disease. Common symptoms include muscle weakness, fever, stiff Every 3 out of 1,000 Afrikaner population living in South Africa suffer from Porphyria. posture and slow physical development. Noonan Syndrome: Sickle Cell Disease: A medical condition that affects different parts of body; and It is a blood disorder that affects the hemoglobin, a red symptoms of Noonan syndrome include bleeding, skeletal malformation, short stature and heart defects. Reports state that 50 to 70% individuals affected with Noonan pigment present in the red blood cells. Life expectancy for male patients suffering with Sickle disorder is reduced to 42 years and in females, it is decreased to 48 years. Every year, this inherited blood disorder affects around 70,000 to 80,000 Americans and it occurs among 1 out of 500 African Americans and Hispanic Americans. syndrome are of small stature. Estimated that out of every 1,000 individuals on the globe, 1 has Noonan syndrome. Fragile X Syndrome: Hemophilia: It is often known as Martin-Bell syndrome or Marker X Syndrome and it is mainly caused due to trinucleotide repeat disorder. Every 1 out of 4,000 males and 1 in every 8,000 females suffer from Fragile X syndrome. Different medicinal, educational and behavioral therapies are used to treat individuals suffering from Fragile X Syndrome. A bleeding disorder that slows down the process of blood clotting and patients with hemophilia experience continuous bleeding for an injury. Major types of hemophilia include hemophilia A (Classic hemophilia) and hemophilia B (Christmas disease). Hemophilia A affects 1 out of 4,000 males and hemophilia B affects 1 out of 20,000 newborn males. An inherited disease that occurs due to excessive accumulation of copper in liver, brain and eyes. Symptoms and signs associated with Wilson's disease can be identified between 6 to 45 years. Approximately 1 from every 30,000 individuals on the globe suffers from this rare disorder. Wilson's Disease: Designed by: www.healthwatchcenter.com graphs.net