1. Sally Freese Family and Consumer Science
Birth Defects An Introduction to the Congenital Anomalies that are Physically Manifested
Sally Freese
Family and Consumer Science

2. Definition & Statistics
Any defect present in a baby at birth, irrespective of whether the defect is caused by a genetic factor or by prenatal events that are not genetic. In the United States, 2-3% of babies are born with a medically significant birth defect. Birth defects are now the leading cause of infant mortality in the United States. Birth defects are present in one of every three babies that die in the United States.
MedicineNet.com

3. Structural Defects Cleft lip/palate Spina bifida Club foot
Congenital Dislocation of the Hip
Congenital Hypothyroidism
Cerebral Palsy

4. Cleft Lip/Palate caused by abnormal facial development in utero
affects a child’s speech and ability to feed
may be surgically corrected

5. Spina Bifida
caused by incomplete closing of the embryonic neural tube (spinal cord)
the opening can be surgically closed, but may not restore function and the child may have to use a wheelchair for life
the incidence of spina bifida can be decreased by up to 70% when daily folic acid supplements are taken prior to conception

6. Club Foot the foot is inverted at the ankle
may affect one foot or both
may be corrected by physical therapy, bracing or casting, or surgery

7. Congenital Dislocation of the Hip
the child’s hip is not in the correct place
this must be detected early to avoid permanent damage to the leg
treatment with several weeks of casting

8. Congenital Hypothyroidism (Cretinism)
condition of severely stunted physical and mental growth due to untreated congenital deficiency of thyroid hormones, usually due to the mother having low thyroid hormones during pregnancy

9. Cerebral Palsy
thought to be caused by problems with intrauterine development
this disorder affects a child’s muscles, thus affects the ability to move and balance
these children can also experience seizures, eating problems, mental retardation, learning disabilities, or behavioral disorders

10. Genetic Disorders Down Syndrome Prader-Willi Syndrome
Fragile X Syndrome
Muscular Dystrophy
Marfan Syndrome
Achondroplasia

11. Down Syndrome
caused by an extra 21st chromosome (these kids have 3, normal kids have 2)
this will affect the child’s cognitive ability and physical growth
these children have a higher risk for developing serious health problems (heart defects, obesity, thyroid dysfunction, etc.)

12. Prader-Willi Syndrome
a disorder that involves seven genes
these children have low muscle tone, short stature, incomplete sexual development, cognitive disabilities, problem behaviors, and a chronic feeling of hunger that can lead to excessive eating and life-threatening obesity

13. Fragile X Syndrome caused by genetic mutation
this results in a spectrum of intellectual disability ranging from mild to severe as well as physical characteristics such as an elongating face, large or protruding ears, and behavior characteristics (social anxiety, involuntary movements)

14. Muscular Dystrophy
these children have progressive skeletal muscle weakness, defects in muscle proteins, and death of muscle cells and tissue
boys are affected more than girls because boys are more likely to inherit the diseased genes

15. Marfan Syndrome genetic disorder that affects the body’s tissues
it affects all parts of the body, including the heart, lungs, eyes, spinal cord, skeleton, and mouth
the extremely long limbs are the most prominent feature

16. Achondroplasia (Dwarfism)
caused by a change in the DNA for growth factor genes
these children have short stature
average adult height is 4 ft 3 in for males and 4 ft 1 in for females

17. Additional Birth Defects
There are many, many more types of birth defects that affect our nation’s children. However, these defects may not necessarily manifest themselves through physical characteristics. These include, but are not limited to: congenital heart defects, defects of the gastrointestinal tract, cystic fibrosis, sickle cell anemia, phenylketonuria, Tay-Sachs disease, and more. These birth defects typically do not result in changes of the child’s physical appearance until late stages of the disease. However, they are just as critical to a child’s health and must be managed by a specialized team of healthcare providers.