Genetic Disorders Problem Pregnancies

Cleft lip/pallet Anyone can have it. More common in some races Appears at birth Birth defect Roof of mouth (palate) not joined. Treated with surgeries.

Clubfoot Anyone can have it Present at birth Many reasons for it. Foot and ankle twisted making it impossible to walk. Treated with surgery and shoes.

Color blindness Sex Linked--Males Present at birth Inability to distinguish certain colors. No cure—learn to accommodate

Cystic Fibrosis Recessive genetic Usually present at birth—can show up later Lack an enzyme so mucous builds up especially in lungs and digestion. Treated with drugs, and pounding on back.

Diabetes Anyone can get it Occurs at birth or later Many factors—incl. genetics and overweight Abnormal metabolism of sugar & insulin Treated with insulin and diet

Down Syndrome More common to young or older parents or genetic tendency Present at birth 21st Chromosome error Varies from mild to severe Surgery for heart defect. Help as needed

Hemophilia Sex linked—males Present at birth Genetic Absence of clotting factor Treated with transfusions and avoid injury

Huntington’s disease (Chorea) Genetic Shows up in middle age. Deterioration of body and brain leading to death No cure

Hydrocephalus Anyone can get it Present at birth or acquired later Many factors cause it Fluid (water) builds up on brain causing brain damage Surgery to put in shunt

Marfan Syndrome Genetic—very rare Present at birth Heart malformed, hearing loss, long and bony limbs Treated with heart surgery, medicine, therapy

Muscular Dystrophy X-linked genetic Present at birth or later in life Weakening and wasting away of muscles. Sometimes death No cure

Sickle Cell Anemia Anyone can get it—more common in blacks Present at birth Genetic recessive Abnormal blood cells—misshaped and unable to carry oxygen Treated with transfusions

Tay-Sachs Disease More common in Jews (ethnicity, not religion) Diagnosed by six months—dies around age 3 to 5 Genetic—recessive Inability to break down fatty deposits in the brain. Nervous system shuts down. No cure

Cerebral Palsy Brain malformed, injured at birth, or damaged later in life Not inherited Ranges from super intelligent to severely retarded Affects brain’s ability to control muscles Treat the symptoms

Thalassemia Genetic—recessive More common in Greeks and Italians Present at birth Abnormal red blood cells, not enough red blood cells. Treated with blood transfusions

Toxoplasmosis The earlier in pregnancy the mother is infected, the lower is the risk of an infection of the fetus, but the severer is the disease. The later in pregnancy the mother is infected, the higher is the possibility of fetal infection, and the disease is less severe  Parasitic infection from cat fecal matter or undercooked/raw meat Infected children have seizures, hearing loss, jaundice, blindness, mental retardation Prevent by cooking meat, not being around cats

Spina Bifida Anyone can get it Present at birth Many factors cause it—current research links it to Folic Acid deficiency in mother Can be slight cyst on spine to open spine—legs are paralyzed, poor bladder control Treated with surgery and therapy