Genetic services: when, where, how

When does a child need genetic services?

There are many features that can be present in a child which would indicate a referral is needed for genetic services. The following is a general (partial) checklist of characteristics that may indicate a child has a genetic defect. When two or more items are found, there may be a need for a genetic evaluation of the child, with or without specialized genetic testing. Each child needs to be evaluated on an individual basis since some of these features, when isolated, are found in the general population and are not associated with a genetic disease. Symptoms of genetic diseases may resemble other conditions or medical problems. Always consult your physician for a diagnosis and a complete list of characteristics.

Birth defects

  • Cataracts - a clouding or opaque area over the lens of the eye -- an area that is normally transparent.
  • Cleft lip and/or cleft palate - congenital birth abnormalities that affect one in every 800 babies. The abnormalities occur in early pregnancy, when the left and right sides of the lip and roof of the mouth normally fuse together. Cleft lip is a separation in the upper lip. Cleft palate is a separation in the roof of the mouth.
  • Congenital heart disease - a condition in which the heart or blood vessels near the heart do not develop normally before birth.
  • Contractures - stiff joints
  • Diaphragmatic hernia - a birth defect in which an opening is present in the diaphragm (the muscle that separates the chest cavity from the abdominal cavity). With this type of birth defect, some of the organs that are normally found in the abdomen move up into the chest cavity through this abnormal opening.
  • Genital malformations - malformations of either the female or male genitals (sex organs)
  • Glaucoma - increased intra-ocular pressure in the eye that can result in optic nerve damage and loss of sight.
  • Misshapen skull
  • Missing fingers or toes
  • Missing or incomplete arms/legs
  • Spina bifida or open spine defects - neural tube defects in which the neural tube fails to close somewhere along the spine.
  • Other problems present at birth

Chronic diseases

  • Bleeding disorders
  • Childhood cancers
  • Kidney or urinary tract disease
  • Slow growth or short stature
  • Cystic fibrosis - an inherited autosomal recessive condition that causes the secretion of abnormal mucus in the lungs and problems with pancreas function and food absorption.
  • Sickle cell disease - an inherited autosomal recessive condition that causes abnormal hemoglobin in blood cells, leading to infections and organ damage.
  • Thalassemia
  • Other chronic disease

Developmental problems

  • Autism
  • Attention deficit/hyperactivity - a group of symptoms or signs that is usually characterized by serious and persistent difficulties resulting in inattentiveness or "distractibility", impulsivity, and hyperactivity.
  • Developmental delay
  • Failure to thrive
  • Learning disability - a disorder that affects people's ability to either interpret what they see and hear or to link information from different parts of the brain. These limitations can show up in many ways -- as specific difficulties with spoken and written language, coordination, self-control, or attention. Such difficulties extend to schoolwork and can impede learning to read or write, or to do math.
  • Loss of developmental skills
  • Low muscle tone
  • Mental illness
  • Mental retardation
  • Speech problems
  • Seizures

Sensory deficits

  • Extreme farsightedness - also known as hyperopia, farsightedness is the most common refractive error in which an image of a distant object becomes focused behind the retina, either because the eyeball axis is too short, or because the refractive power of the object is too weak. This condition makes close objects appear out of focus and may cause headaches and/or eye strain.
  • Extreme nearsightedness - also known as myopia, nearsightedness is a condition in which, opposite of hyperopia, an image of a distant object becomes focused in front the retina, either because the eyeball axis is too long, or because the refractive power of the object is too strong. This condition makes distant objects appear out of focus and may cause headaches and/or eye strain.
  • Hearing loss
  • Retinal or other visual problems

Physical features

  • Ear abnormalities
  • Unusually shaped eyes
  • Different colored eyes
  • Facial features which are unusual or are very different from other family members
  • Brittle or sparse hair
  • Excessive body hair
  • White patch(es) 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
  • Any other unusual features

Where to find genetic services

Genetic services are usually available in large hospitals or medical centers. The local phone book or physician directory may help you identify a genetic service provider in your area. Consult your physician for more information.

How genetic services can help

Genetic services can provide the following:

  • Information about your family history and any genetic risk factors
  • The diagnosis of a genetic disorder by physical examination and/or genetic laboratory testing
  • How/why a disorder occurred (in most cases)
  • The chance for the disorder to reoccur in the family
  • The chance for other family members to have the disorder or pass it on
  • The management and treatment of the disorder
  • Support groups for the disorder
  • Connections to other families who have a child with a similar/same disorder