Down syndrome: Causes, symptoms, and diagnosis

Down Syndrome

Down syndrome is a congenital anomaly or a birth defect in which babies are born with extra genetic material from chromosome 21. The extra chromosome is sometimes present with other problems including mild to moderate intellectual disabilities, characteristic facial features, and health concerns such as heart defects. The severity of this congenital anomaly varies greatly from child to child. Trisomy 21 is the most common type of Down syndrome, occurring in about 95 percent of cases.

The two other variants of Down syndrome are Translocation Down Syndrome (4%) and Mosaic Down syndrome (1%). Down Syndrome is the most common genetic birth defect. Down syndrome, itself, does not have a cure.  But, treatment is available for many of the other symptoms that accompany this birth defect. Children with Down syndrome have an increased risk for certain medical conditions such as Heart defect, ear infections and increased risk for other infections, increased risk for visual or hearing impairment, obesity, thyroid conditions, cold and pneumonia etc.

Down syndrome is a congenital anomaly which can affect a child physically, cognitively, and behaviorally. Remember that every child with the condition is unique and may present with these characteristics to different degrees or not at all. A child with Down syndrome as birth defect will have some, but perhaps not all, of the following features:

• eyes that slant upward
• small ears that may fold over slightly at the top
• a smaller than average mouth, making the tongue appear larger
• a smaller than average nose, with a flattened nasal bridge
• Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.
• short necks and small hands with short fingers
• Rather than having three ‘creases’ in the palm of the hand, a child with Down syndrome may have one single crease that goes straight across the palm, and a second crease that curves down by the thumb.
•  often shorter than average and has unusual looseness in his or her joints
• low muscle tone) throughout the body.
• Low intellect
• short attention span
• stubbornness