Genetic Diseases Flashcards
Angelman syndrome
Affects the nervous system. Comes with frequent seizures, a smaller head size, hard time with speech, and they usually flap their arms around
Moebius syndrome
Cranial nerves effected. Hard time smiling because facial muscles are effected. Inability to move eyes
Ehlers danlos syndrome (EDS)
Loose stretchy skin
Thalassemia
Blood disorder where it makes an abnormal form of hemoglobin. Results in large number of destroyed red blood cells
Congenital heart defects
Heart abnormalities present when the child is born. Excess amount of blood in lungs, not enough blood in lungs, or not enough blood flows through the body
Fragile X syndrome
X linked disorder on the FMR1 gene. Affects boys more than girls
Neurofibromatosis
Body begins to grow tumors that are both inside and outside the body
Marfan syndrome
Effects connective tissue. Tall and thin
Klinefelter syndrome
Male gets one or more additional X chromosome making them more feminine with enlarged breast tissue low muscle mass and infertility
Prader- willi syndrome
Excessive hunger causing obesity
Cornelia de Lange
-
Ichthyosis
Tough scaly skin
Wilsons disease
A build up of copper in the organs which can cause eye discoloration
Xeroderma pigmentosum
Causes dry skin, blistering, sunburn, and hard to go in sunlight
Muscular dystrophy
-interfere with the production of proteins causing loss of muscle mass
Waardenburg syndrome
Changing of hair skin and eye color
Polycystic kidney disease
High blood pressure, urine tract infection, kidney stones, bloody urine, cysts on kidney
Velocardiofacial syndrome
Chromosome 22 cleft palet
Hartnup’s disease
-
Spina bifida
-neural tube is affected. Sac appears on back.
Hunters syndrome
Sugar
Tay-sachs
-
Cystic fibrosis
Salty skin lung problem
Ataxia telangiectasia (AT)
-causes immobility, dilated blood veins, weak immune system, and speech problems
