It is challenging for parents to know that their child is diagnosed with Down syndrome. They may at first feel overwhelmed by feelings of loss, guilt, and fear. Down syndrome, also called trisomy 21, is a common neurodevelopmental disorder. In fact, it can be easily identified since down syndrome facial features are very recognizable. What’s more, a child with Down syndrome may also have other health problems such as heart defects and issues with vision, hearing, and dental development. You can visit Sydney CBD’s trusted clinic, Macquarie Dental, or any dental clinic near you so they can help address dental problems in patients with special needs. In any case, keep reading to learn the distinct features of down syndrome, including other health issues it accompanies with.


People With Down Syndrome

Down syndrome is a genetic disorder where there is an additional full or fractional chromosome 21. For numerous individuals with Down syndrome, this irregularity causes a large group of dental professionaldistinctive physical characteristics and possible health and medical issues. The exemption is the individuals who have the generally uncommon type of Down disorder called mosaic Down syndrome. Not all cells have an extra chromosome 21. An individual with this kind of Down syndrome might have all the features of full trisomy 21, a couple of them, or none at all.


Diagnosis for Individuals with Down Syndrome

There are two fundamental kinds of tests accessible to recognize Down syndrome during pregnancy. These are the screening tests and diagnostic exams. A screening test can help a woman if her pregnancy has a lower or higher possibility of having Down syndrome. Though this may not provide an absolute conclusion, a screening test is still more secure for the mother and the developing child. On the other hand, diagnostic exams can often tell whether or not a child will have Down syndrome. Yet, this process can be riskier for the expectant mom and her developing baby. Moreover, it is essential to know that neither of the two tests can anticipate the complete impact of Down syndrome on a baby.


Risk for Down Syndrome

The mother’s age is the single factor associated with the danger of having a baby with Down syndrome. This danger increments with each year of age, particularly after age 35. However, younger women are more likely to have babies than older women. Hence, most children with Down syndrome are born to ladies more youthful than 35.


Characteristics of Children With Down Syndrome

The main sign a child may have Down syndrome can show up during routine prenatal testing. In the quadruple screen, a maternal blood test, raised levels of some substances can be a warning for the disorder. However, the test does not mean an infant certainly has the syndrome.


Visible Symptoms of Down Syndrome

On an ultrasound, noticeable indications an infant may have Down syndrome incorporate:

  • A missing nose bone
  • Excess skin in the back of the neck
  • A more limited than-ordinary thigh bone

These signs and symptoms brief health providers to provide an amniocentesis or chorionic villi sampling (CVS). Both prenatal examinations can analyze cells taken from the placenta and can confirm a diagnosis of Down syndrome. A few parents settle for these tests, while others do not.


Features of Down Syndrome

Individuals with Down syndrome share a host of similar facial features and issues. Generally, these are most noticeable at birth and can turn out to be more distinct with time. The undeniable facial characteristics of Down syndrome include:

  • An enormous tongue that might protrude from the mouth
  • Almond-shaped eyes with skin that covers the inner eye
  • A round face with a flat feature and small nose and mouth
  • Small ears
  • Short neck
  • White specks in the colored area of the eyes
  • Tiny feet with a bigger than typical space between the big and second toes
  • A small head that is somewhat flat in the back
  • Short stubby fingers and a pinky finger that curves inward
  • Low muscle tone
  • Short, stocky body

Though kids with Down syndrome typically are average size. Yet, they tend to develop at a slower pace and stay smaller than other children their age.


Intellectual Issues in Down Syndrome

Anyone affected by Down syndrome has some level of intellectual disability. Individuals with the condition tend to learn slower and have trouble with complex reasoning and judgment. It is difficult to anticipate what level of intellectual disability those babies born with Down syndrome will have. In any case, this becomes more clear as they age.

Intellectual disability of most people with Down syndrome range within the mild to moderate level. In fact, despite their IQ, people with the disorder can still learn. There is frequently a misconception that a person with Down syndrome has a predetermined capacity to learn. In any case, know that children and adults with Down syndrome develop throughout their lifetime and have the power to learn. This ability can be expanded through early intervention, better schooling, higher expectations, and support.


Health Problems in Down Syndrome

Numerous people with the condition have similar facial features and no other significant birth defects. Nonetheless, some individuals with Down syndrome may have at least one major birth defect or other health issues. Some common medical problems among children with Down syndrome are recorded below.



Almost all babies with Down syndrome have low muscle tone, known as hypotonia. The condition implies that their muscles are weak and appear somewhat floppy. Hypotonia can make it harder The child gives a high sit up, rollover, and talk. In infants, low muscle tone can likewise cause feeding issues.

Numerous kids with Down syndrome are delayed in their motor skills due to hypotonia. Though low muscle tone cannot be treated, it usually improves over time through the help of physical therapy. Furthermore, hypotonia might prompt orthopedic issues, one more typical problem related to a Down syndrome diagnosis.


Vision Problems

Problems with vision are usual in Down syndrome and the probability of having one increases as individual ages. Children with trisomy 21 must-have early eye tests since most of their vision problems are correctable.


Heart Defects

Around 50% of infants with Down syndrome are born with heart defects. Some of these are mild and may address themselves without medical intervention. Other heart problems are more extreme, requiring medication or surgical procedures.


Hearing Loss

Hearing issues are also common in people with down syndrome, particularly otitis media. This ear infection affects around 50 to 70 percent and is a typical reason for hearing loss. In any case, hearing loss that exists at birth happens in about 15% of babies with Down Syndrome.


Gastrointestinal Problems

Around 5% of newborn children with Down syndrome will have gastrointestinal problems. For example, narrowing or blockage of the digestion tracts or a missing anal opening. The vast majority of these malformations can be addressed with surgery.

Hirschsprung’s disease, an absence of the nerves in the colon, is more typical in people with Down syndrome than in the general population, yet is still very uncommon. Additionally, there is a strong relationship between Down syndrome and celiac disease, which is more familiar in individuals with Down syndrome than in general.


Thyroid Problems

Down syndrome may also promote issues with the thyroid gland. This condition can result in hypothyroidism. In any case, you can treat hypothyroidism by taking medication. This treatment should be taken for the rest of the individual’s life.



Seldom, around 1% of the time, a person with Down syndrome can develop leukemia. This is a cancer-type health problem that influences the blood cells in the bone marrow. Indications of leukemia incorporate simple swelling, a pale complexion, fatigue, and unexplained fevers. Even though leukemia is a severe condition, the survival rate is high. Most of the time, the doctor will recommend chemotherapy, radiation, or a bone marrow transplant to handle this condition.



Down syndrome is a lifelong condition. Early medical intervention will usually help babies and children with Down syndrome work on their physical and intellectual capacities. The more significant part of these interventions centers around children with Down syndrome developing their maximum potential. These interventions include speech, physical, and occupational therapy.



Down Syndrome (Trisomy 21) in Children.

Chorionic Villus Sampling (CVS).

Overview – Hypotonia.

Gastrointestinal Disorders.

Ears – Hearing loss in children with Down syndrome.

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