Genetic Disorders

What are genetic disorders?

Genetic disorders is a category of diseases that includes certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents.

Birth defects

Chronic diseases

Developmental problems

Sensory Deficits

Some of the symptoms can be the same as those for conditions that are not inherited. Features can appear at birth (congenital heart disease or cleft lip or palate) or during the course of childhood (developmental delays or learning problems). Diagnosis may involve a physical exam or targeted genetic testing.

What are the physical signs of genetic disorders?

The following list includes features that might suggest that your child has a genetic disorder. However, some of these characteristics are commonly found in people without a disorder. You'll want to check with your doctor if your child has at least two of the following features:

  • ear abnormalities
  • unusually shaped eyes
  • different colored eyes
  • facial features that are unusual or 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
  • webbed fingers or toes
  • excessive skin
  • unusual birthmarks
  • increased or decreased sweating
  • unusual body odor

What is genetic counseling and how do I know if I need it?

Genetic counseling can tell you whether you're at risk of developing a genetic disorder or having a child with a genetic disorder. Genetic counseling can also help you to make sense of the information and put it into context for your child. It may be conducted by a geneticist, a doctor with special training, or a genetic counselor, who will explain the cause of a disorder, availability of testing, prognosis, medical management, and treatment. Genetic counseling sessions typically last an hour or longer, depending on the complexity of your child's case is. There are many reasons to seek genetic counseling, including the following:

1. family history or previous child with:

  • chromosome abnormalities (such as Down syndrome)
  • cleft lip/palate
  • heart defects
  • mental retardation
  • neural tube defects
  • short stature
  • single gene defects (such as cystic fibrosis or PKU)
  • hearing or visual impairments
  • learning disabilities
  • psychiatric disorders
  • cancers
  • multiple pregnancy losses (miscarriages, stillbirths, or infant deaths)

2. a parent with an autosomal dominant disorder, or any disorder seen in several generations

3. pregnancy factors (mother older than 35 years)

4. mother with any of the following:

  • schizophrenia
  • depression
  • seizures
  • alcoholism
  • diabetes
  • thyroid disorder
  • fetal or parental exposure to certain drugs, chemicals, radiation, or infections
  • advanced paternal age at the time of conception
  • infertility cases where either parent is suspected of having a chromosome abnormality
  • couples requiring assisted reproductive techniques to achieve a pregnancy, or individuals donating eggs or sperm for those purposes
  • ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay-Sachs disease, sickle cell disease, or thalassemia

How we care for genetic disorders

The Division of Genetics and Genomics works closely with the Genetics Division's research laboratories to develop scientific findings into new treatments and cures for your child. Home to the world's only center studying rare “orphan” diseases that affect fewer than 200,000 people in the country, we are poised to become the richest database of genetic and clinical pediatric data in the world.