Down Syndrome or Trisomy 21

Down Syndrome also known as trisomy 21 is a genetic disorder that causes delays in the development of a child.  It is estimated that Down syndrome affects one in every 800 babies.  The Down syndrome condition is brought on by extra genetic material.  This extra genetic material is the twenty-first chromosome.  Normal human genetic makeup includes pairs of twenty-three different chromosomes.  In persons afflicted with Down syndrome, the intended pair of the twenty-first chromosome actually contains three chromosomes instead of two.  This simple addition of one chromosome causes a mixture of major and minor variations in body structure.  The disease can affect cognitive capabilities, physical development, and facial appearance.  The degrees to which any of these symptoms can progress or develop vary widely from one case to another.

Though the degree and severity of the symptoms of Down syndrome vary based on individual cases, there are some physical characteristics of Down syndrome which almost all those afflicted experience.  These common Down syndrome symptoms include almond shape eyes as the result of an epicanthic fold of the eyelids, a flat nasal bridge, white spots on the iris, shorter limbs, a protruding tongue, a single transverse palmar crease, and poor muscle tone.  These physical features are commonly associated with persons having Down syndrome due to their distinct nature and appearance. 

Most persons with Down syndrome display a very round and broad facial and cranium structure.  Victims of Down syndrome have a higher risk of congenital heart defects, recurrent ear infections, thyroid dysfunctions, obstructive sleep apnea, and gastro-esophageal reflux disease.  As far as mental functioning abilities, most persons having Down syndrome suffer from mild to moderate retardation, and the majority of these individuals have IQ levels at or below seventy.  This information, however, is not representative of the learned abilities and capacities of many persons suffering with Down syndrome.  

With special education and guidance from a pediatrician, many persons with less severe forms of genetic malformation go on to lead normal and relatively productive lifestyles.  Down syndrome is usually diagnosed at birth.  Early intervention and treatment can offer great improvement in the development and quality of life for a child suffering from this disease.  The most important pieces of information for expectant mothers or mothers of young children with Down syndrome come from their personal pediatrician.

Physical characteristics of Down Syndrome may include:

• Small head
• Small mouth
• Flattened nose
• Protruding tongue
• Upwardly slanted eyes
• Short hands and fingers
• Single crease in the palm
• Decreased muscle tone at birth
• Asymmetrical or odd-shaped head

Do you or someone you know have a child with Down syndrome?  Contact a pediatrician in your area that specializes in treatment of children with Down syndrome!

Read more on other child health topics: Child Health Insurance and Children and Health