Genetic Disorders and Birth Defects. Cleft lip/pallet Affects: anyone, more common in asians and...
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Transcript of Genetic Disorders and Birth Defects. Cleft lip/pallet Affects: anyone, more common in asians and...
Genetic Disorders and Birth Defects
Cleft lip/pallet
Affects: anyone, more common in asians and native americansWhen appears: birthMethod of inheritance: mulifactoralEffect on person: two sides of lip and/or pallet not joinedTreatment: surgery
Clubfoot
Affects: AnyoneWhen appears: Birth Method of inheritance: MultifactoralEffect on person: Foot and ankle twisted, making it impossible to walk normally Treatment: surgery, corrective shoes
Color Blindness
Affects: Males When appears: Birth Method of inheritance: x-linkedEffect on person: Inability to distinguish certain colors Treatment: none- just help adapt
Cystic Fibrosis
Affects: AnyoneWhen appears: Birth, some in adult-hood Method of inheritance: Recessive Effect on person: Lack of an enzyme, mucous obstructions in body, especially in lungs and digestion; growth retardation Treatment: respiratory help
Diabetes
Affects: AnyoneWhen appears: Birth or later Method of inheritance: MultifactoralEffect on person: Abnormal metabolism of sugar because body doesn’t produce enough insulin Treatment: insulin shots/ oral diet
Down’s Syndrome
Affects: Anyone, more common to young or old parentsWhen appears: Birth Method of inheritance: Chromosomal error Effect on person: Some form of mental retardation; oval shaped eyes; thick, big tongue; short neck; back of head is flat; ears small; nose flat and wide; shorter, loose joints; heart problemsTreatment: therapy; special assistance
Hemophilia
Affects: Males When appears: Birth Method of inheritance: x-linked Effect on person: absence of clotting factor in blood, crippling and death from internal bleeding Treatment: transfussions
Huntington’s Disease
Affects: Parents must have When appears: Middle ages Method of inheritance: DominantEffect on person: Deterioration of body and brain in middle age; death Treatment: none
Hydrocephalus
Affects: AnyoneWhen appears: Birth Method of inheritance: MultifactoralEffect on person: Obstruction causes water on brain; produce brain damage and death Treatment: surgery, put in shunt
Marfan’s Syndrome
Affects: Parent must carry When appears: Birth Method of inheritance: Dominant Effect on person: Heart Malformation, hearing loss, eye weaknessTreatment: surgery, antibiotics, physical therapy, regular checkups
Muscular Dystrophy
Affects: AnyoneWhen appears: childhood, adulthoodMethod of inheritance: MultifactoralEffect on person: weakening of muscles, inability to walk or moveTreatment: none
Phenylketonuria (PKU)
Affects: AnyoneWhen appears: Birth Method of inheritance: RecessiveEffect on person: Abnormal digestion of protein; hyperactivity Treatment: preventable diet
Polydactyl
Affects: Parent carry When appears: Birth Method of inheritance: DominantEffect on person: Extra fingers and toes Treatment: surgery
Sickle Cell Anemia
Affects: AnyoneWhen appears: Birth Method of inheritance: Recessive Effect on person: Abnormal blood cells; bouts of pain, heart and kidney failure, less oxygenTreatment: transfusions
Spina Bifida
Affects: AnyoneWhen appears: Birth Method of inheritance: MultifactoralEffect on person: Varies from slight cyst to open spine Treatment: surgery, physical therapy
Tay-Sachs
Affects: AnyoneWhen appears: 6 months, Method of inheritance: MultiRecessive Effect on person: Enzyme disease causing inability to break down fatty deposits in brain and nerve cells; cells clog and shut down nervous system; apparently healthy at birth, death by age 3 Treatment: none
Thalassemia
Affects: AnyoneWhen appears: Birth Method of inheritance: Recessive Effect on person: Abnormal blood cells; paleness and listlessness, low resistance to infection; do no produce enough red blood cells; liver and spleen enlargedTreatment: blood transfusions