According to the Centers for Disease Control and Prevention, about one in every 700 babies in the United States is born with Down syndrome, making the disorder the most common chromosomal condition. The diagnosis of Down syndrome is usually made before the birth of the child, due to ultrasound findings or genetic testing, or shortly after birth, due to the child’s physical appearance. Confirmation of the diagnosis is usually done by chromosomal testing after birth.
People with Down syndrome have specific physical features, medical conditions and cognitive impairments due to the presence of extra genetic material from chromosome 21. However, there is variability in personalities and how the condition presents itself.
While not all people with Down syndrome share the same physical characteristics, there are a number of features that tend to be present in this genetic disorder. For this reason, people with Down syndrome tend to have a somewhat similar appearance. Some of these physical features include:
- Epicanthic folds (extra skin of the inner eyelid, which gives the eyes an almond shape)
- Upward-slanting eyes
- Brachycephaly (a small head that is slightly flattened in the back)
- Hypotonia (low muscle tone)
- A flat nasal bridge
- Single transverse palmar creases – a single line that runs across the palm of the hand, as opposed to two lines on people without Down syndrome
- A short pinky finger
- Short stature
Associated Medical Conditions
While not all people with Down syndrome will have these medical conditions, other potential health concerns associated with the disorder include:
- Vision problems and cataracts
- Hearing impairment and ear infections
- Congenital heart defects
- Spine abnormalities
- Hip dysplasia – when a hip socket doesn't fully cover the ball portion of the upper thighbone
- Congenital/structural gastrointestinal abnormalities (Hirschsprung's; bowel blockages)
- Hypothyroidism – when the thyroid gland doesn't produce enough thyroid hormone
- Blood disorders (anemia; leukemia)
- Excessive weight gain
- Decreased physical activity
- Sleep apnea
- Celiac disease
- Dental problems (the absence of teeth; delayed tooth eruption)
- Autism spectrum disorder
- Neurological dysfunction
- Impaired cognitive and adaptive abilities
Life-Long Health Supervision
Not everyone is familiar with the multiple areas of concern that need careful, routine medical monitoring to ensure that all individuals with Down syndrome receive the care they need.
The American Academy of Pediatrics (AAP) published a comprehensive report, entitled "Health Supervision for Children with Down Syndrome," which lists specific screening recommendations through adulthood. The study illustrates why it’s important for an individual's healthcare provider or medical team be familiar with these guidelines and perform the recommended tests and screening for individuals with Down syndrome.
At Ochsner, The Michael R. Boh Center for Child Development features a specialized, multi-specialty clinic designed to address the multitude of needs of individuals with Down Syndrome. Learn more by calling 504-493-2019 or by clicking here.