Medical Genetics: Getting Genetic Services for Your Child

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 or ligaments leading to stiff joints.

• 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:

• Bleeding disorders

• Childhood cancers

• Kidney or urinary tract disease

• Slow growth or short stature

• Cystic fibrosis, which is a condition that causes high amounts of mucus in the lungs and causes problems with how the pancreas works and nutrient absorption from food

• Sickle cell disease, which is a condition that causes abnormal hemoglobin in blood cells and leads to infections and organ damage

• Thalassemia, which is a blood disorder that causes anemia because the body doesn’t make enough hemoglobin

Types of developmental problems include:

• Autism spectrum disorder, which causes problems with social interaction, behavioral differences, and language problems

• Attention-deficit/hyperactivity disorder (ADHD), which causes problems with paying attention, controlling impulsive behaviors, and hyperactivity

• Developmental delay

• Failure to thrive, which means a child doesn’t have normal weight or growth compared to other children of the same age and sex

• Learning disability, which can cause problems with language, attention, or ability to learn

• Loss of developmental skills

• Low muscle tone (hypotonia)

• Mental illness

• Intellectual disability

• Speech problems

• Seizures

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

• Hearing loss

• Retinal or other visual problems

Types of abnormal physical features include:

• Ear abnormalities

• 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

• Misshapen teeth

• Missing or extra teeth

• Loose or stiff joints

• Unusually tall or short stature

• Webbing between fingers or toes

• Excessive skin

• Unusual birthmarks

• Increased or decreased sweating

• Unusual body odor