Medical Genetics

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 1,000 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

More Information

Schneider Children's Hospital Division of Human Genetics

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