Genetic Disorders and Birth Defects

Cleft lip/pallet Affects: anyone, more common in asians and native americans When appears: birth Method of inheritance: mulifactoral Effect on person: two sides of lip and/or pallet not joined Treatment: surgery

Clubfoot Affects: Anyone When appears: Birth Method of inheritance: Multifactoral Effect 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-linked Effect on person: Inability to distinguish certain colors Treatment: none- just help adapt

Cystic Fibrosis Affects: Anyone When 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: Anyone When appears: Birth or later Method of inheritance: Multifactoral Effect 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 parents When 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 problems Treatment: 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: Dominant Effect on person: Deterioration of body and brain in middle age; death Treatment: none

Hydrocephalus Affects: Anyone When appears: Birth Method of inheritance: Multifactoral Effect 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 weakness Treatment: surgery, antibiotics, physical therapy, regular checkups

Muscular Dystrophy Affects: Anyone When appears: childhood, adulthood Method of inheritance: Multifactoral Effect on person: weakening of muscles, inability to walk or move Treatment: none

Phenylketonuria (PKU) Affects: Anyone When appears: Birth Method of inheritance: Recessive Effect on person: Abnormal digestion of protein; hyperactivity Treatment: preventable diet

Polydactyl Affects: Parent carry When appears: Birth Method of inheritance: Dominant Effect on person: Extra fingers and toes Treatment: surgery

Sickle Cell Anemia Affects: Anyone When appears: Birth Method of inheritance: Recessive Effect on person: Abnormal blood cells; bouts of pain, heart and kidney failure, less oxygen Treatment: transfusions

Spina Bifida Affects: Anyone When appears: Birth Method of inheritance: Multifactoral Effect on person: Varies from slight cyst to open spine Treatment: surgery, physical therapy

Tay-Sachs Affects: Anyone When 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: Anyone When 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 enlarged Treatment: blood transfusions