Signs and Symptoms of Down Syndrome


Although the signs and symptoms of Down syndrome are very distinct, there are still others that might confuse both doctors and patients. Knowing the characteristics, nature and triggers can be very valuable for finding immediate alleviation measures. You can also avoid complications by checking for the early signs. Here are the complete details.

Incidence and Age

About 1 out of every 1,000 births in the United States results in Down syndrome. There is no link between the condition and ethnic group, socioeconomic status, geographic location and culture. It is a genetic condition primarily, and can display characteristics like cognitive disability, developmental delays and mental retardation. The chances of a person getting Down syndrome is greatly related to the age of his or her mother. Below the age of 25, the incidence is around 1 in every 1,400. At 40 years old, the odds are an estimated 1 in every 100 and about 1 in every 350 at age 35.

Down Syndrome Types

There are 3 types of the condition namely Trisomy 21, Mosaicism and Translocation. Trisomy 21 is the first type which occurs in about 95 percent of individuals with Down syndrome. The patient 3 number 21 chromosomes, instead of 2. There are normally 23 pairs of chromosomes, with each comprised of genes. During conception, the man or woman's pair of chromosomes usually split so that there is only one chromosome found in each sperm or egg. In Trisomy 21, the 21st pair of chromosomes does not split. A double-does then goes to the sperm or egg. About 95% to 97% of the extra chromosome comes from the mother.

Mosaicism is described as a Down syndrome patient having an extra 21st chromosome in only a number of cells, but not in every single one. Other cells usually have the regular pair of 21st chromosomes. The Mosaicism type is the rarest, with only 1% to 2% of patients having it. Translocation happens in about 3% to 4% of Down syndrome patients. The extra part of the 21st chromosome usually attaches to another chromosome. One parent has the extra 21st chromosome material in hidden or balanced form.

The 24 Symptoms

The list of signs and symptoms of Down syndrome includes physical anomalies such as a protruding tongue, abnormally shaped ears, flattened face, snub nose, upward slanting eyes, short neck, flattened nasal bridge, deep palm crease, hypotonia, deep transverse crease of the palm, iris white spots or Brushfield spots, the baby not crying a lot, short stubby hands, short stubby feet and slow physical growth. Thyroid symptoms include autonomic disturbances, congenital hypothyroidism and an enlarged thyroid. The patient may also have mental retardation and developmental delay.

Other Conditions

Children may also develop other medical conditions associated to Down syndrome like cognitive disability or mental retardation. Several kids with Down syndrome have either moderate or mild cognitive disability. Heart defects may also arise in about half of kids with Down syndrome. The defects are found at birth or shortly after.

Other diseases can also be present like Celiac disease, eye conditions and hypothyroidism. Parents should be especially careful, since other health problems can also occur like hearing problems, eye infections, dental problems and respiratory infections. Tissue buildup in parts of the eye can happen. Crooked teeth may also be present later on in life, with an irregularly shaped mouth.

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