Genetic Services: When, Where, How
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.
|___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.
___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:________________
___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.
___Other chronic disease:________
___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.
___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
|___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.
___Retinal or other visual problems
___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
___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
___Any other unusual features:____________
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.
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 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
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Online Resources of Medical Genetics