Birth Defects

An Introduction to the Congenital Anomalies that are Physically

Manifested

Sally FreeseFamily and Consumer Science

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.

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Structural Defects

• Cleft lip/palate• Spina bifida• Club foot• Congenital Dislocation of the Hip• Congenital Hypothyroidism• Cerebral Palsy

Cleft Lip/Palate

• caused by abnormal facial development in utero• affects a child’s speech and ability to feed • may be surgically corrected

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

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

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

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

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

Genetic Disorders

• Down Syndrome• Prader-Willi Syndrome• Fragile X Syndrome• Muscular Dystrophy• Marfan Syndrome • Achondroplasia

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.)

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

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)

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

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

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

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.