Genetic services are programs that help support families and children with genetic disorders. Genetic services can:
Give you information about your family’s genetic risk factors
Diagnose a genetic disorder, by physical exam or genetic testing
Tell you how or why a disorder occurred, and the chance for it to occur again in the family
Give you choices for managing and treating a disorder
Connect you with support groups for a disorder
Connect you with other families with children who have a disorder
You can seek genetic services for a child in many cases. You can find your child’s risk for problems, or have a condition diagnosed. The many types of genetic issues include:
Abnormal physical features
You can learn more about the types of these genetic issues below.
Types of birth defects include:
Cataracts. This is a clouding over the lens of the eye.
Cleft lip or cleft palate. These are conditions that cause a gap in the upper lip, upper palate, or both.
Congenital heart disease. This is a condition in which the heart or blood vessels near the heart don’t develop normally before birth.
Contractures. This is an abnormal shortening of muscles.
Diaphragmatic hernia. This is a hole in the diaphragm. The diaphragm is the thin muscle that divides the chest from the abdomen. Some organs that are normally in the abdomen may move up into the chest cavity through this hole.
Genital malformations. These are problems with the sex organs (genitals).
Glaucoma. This is an increase in pressure in the eye. It can lead to optic nerve damage and loss of eyesight.
Misshapen skull. The skull may be large or small, or have an abnormal shape.
Missing or incomplete appendages. This includes fingers, toes, arms, or legs.
Neural tube defects. These are problems with part of the spine that doesn't close. . Spina bifida is a type of neural tube defect.
Types of chronic diseases include:
Kidney or urinary tract disease
Slow growth or short stature
Cystic fibrosis. This is a condition that causes high amounts of mucus in the lungs. It also causes problems with how the pancreas works and problems with absorbing nutrients from food.
Sickle cell disease. This is a condition that causes abnormal hemoglobin in blood cells. It leads to infections and organ damage.
Thalassemia. This is a blood disorder that causes anemia because the body doesn’t make enough hemoglobin.
Types of developmental problems include:
Autism spectrum disorder. This is a disorder that causes problems with social interaction and communication.
Attention-deficit/hyperactivity disorder. This causes problems with attention and hyperactivity.
Failure to thrive. This means a child doesn’t grow normally.
Learning disability. This can cause problems with language, coordination, self-control, or attention.
Loss of developmental skills
Low muscle tone
Types of sensory deficits include:
Extreme farsightedness (hyperopia), where nearby objects are out of focus
Extreme nearsightedness (myopia), where distant objects are out of focus
Retinal or other visual problems
Types of abnormal physical features include:
Unusually shaped eyes
Different colored eyes
Facial features that are unusual or are very different from other family members
Brittle or sparse hair
Excessive body hair
White patches of hair
Large or small tongue
Missing or extra teeth
Loose or stiff joints
Unusually tall or short stature
Webbing between fingers or toes
Increased or decreased sweating
Unusual body odor
Genetic services are often found in large hospitals or medical centers. Talk with your healthcare provider. He or she can refer you to a medical facility near you. You may also want to consult with your health insurance provider. You can find more information from these resources:
National Coordinating Center for the Regional Genetic Service Collaboratives
Baby's First Test, the Newborn Screening Clearinghouse