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Unusual Genetic Disorders

Unusual Genetic Disorders: Know Where it Attacks! GENETIC DISORDER A genetic disorder is a disease that is caused by an abnormality in an individual's DNA. Ab- normalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. GENETICS Genetics (from Ancient Greek ', "genitive" and that from ', "origin"), a discipline of biology, is the science of heredity and variation in living organisms. The fact that living things inherit traits from thoir parents has been usod since prehistoric times to improve crop plants and ani- mals through selective breeding. However, the modern sclence of genetics, which seeks to understand the process of inheritance, only began with the work of Gregor Mendel in the mid-nineteenth century. Although he did not know the physical basis for heredity, Mendel observed that organisms inherit traits via discrete units of inheritance, which are now called gones. Head/Brain Diseases #1 Benjamin Syndrome •a type of multiple congenital anomaly/mental retardation • first described in the medical literature in 1911. • Symptoms: Hypochromic anemia, Underdeveloped bones, Retarded growth, Mental retardation #2 Alzheimer's Disease • progressive disease of the brain, usually starts after age 65 • characterized by confusion, los of memory, disorientation, restlessness, speech disturbances, inability to carry out normal movements, and hallucinations • discovered by Aloysius Alzheimer #3 Cutis verticis gyrate • medical condition usually associated with thickening of the scalp. • visible folds, ridges or creases on the surface of the top of the scalp. • Hair loss can occur over time where the scalp thickens, though hair within any furrows remains normal. Arm Diseases #1 Freeman-Sheldon syndrome [whistling face syndrome) • affects the face, hands, and feet. • facial appearance includes a small mouth (microstomia) with pursed lips, giving the appearance of a "whistling face." • characterized by joint deformities (contractures) that restrict movement. • Symptoms:Drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis, and walking difficulties. #2 Holt-Oram syndrome • skeletal abnormalities of the hands and arms (upper limbs) and heart problems. • İs present at birth, so diagnosis may be made based on hand and arm abnormalities • heart related anomalies are also symptoms associated with Holt Oram. #3 Robinow syndrome •a rare disorder of skeletal development that affects many parts of the body. • characterized by skeletal abnormalities including shortening of the long bones in the arms and legs, particularly the forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal bones (hemivertebrae) leading to an abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; and short stature. Torso Diseases #1 Polycystic kidney disease • 17% of cases initially present with observable disease in one kidney, with most cases progressing to bilateral disease in adulthood. • most common life-threatening genetic diseases, affecting an estimated 12.5 million people worldwide #2 Crohn's disease •a chronic inflammatory bowel disease that causes on-going inflammation of the intestinal tract. It is similar to ulcerative colitis, another inflammatory bowel disease. • affects 2-1 out of 100,000 people and researchers believe that these numbers are growing. It develops mostly between the ages of 20 - 40, although children and older adults may also develop the condition Lower Extremities #1 Amptomelic Dysplasia • refers to the bowing of the femur, tibia or vertebral column. attacks chromosome 17, congenital short-limb dwarfism • symptoms: respiratory distress in newborn, cervical instability, enlarged kidney, sex reversals (phenotypic females are genetically males) #2 Congenital absence of the vas deferens (CAVD) • condition which the vas deferentia, male reproductive organs fail to form prior to birth. "vas deferencs connects the testicles to the penis #3 Robinow syndrome • condition where an individual is born with ovarian and testicular, afflicts the sry gene (Sex Determining region of Y) References: 000043.htm#ixzz2AlorkoCc

Unusual Genetic Disorders

shared by kaidan on May 23
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This infographic explains some of the less common genetic disorders, explaining where they affect us and how they affect us. The genetic diseases are divided according to the part of the body affected.






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