Down syndrome is one of the most common congenital syndromes. This is a genetic disease that occurs when a baby had an extra copy of chromosome 21. This is referred to as trisomy 21. Patients affected with this disorder do end up presenting with signs and symptoms such as delay in physical growth and development, abnormal physical features, and reduced intellectual capacity. These disabilities associated with this disease are permanent and lifelong. Apart from limiting the individual from functioning normally, this disease also reduces the lifespan of the person affected. However, Down syndrome patients can still live a normal life and have families. Studies have shown that the parents of Down syndrome patients are mostly genetically normal. The disease mostly occurs by chance. The disease can be identified during pregnancy, per undergoing prenatal screening. Typically, more tests such as genetic testing are done to confirm the diagnosis. The fetus that tests positive to the presence of this genetic disease is terminated. This is to save the baby from the agony and an abnormal life as an adult. In addition, it also saves the parents the stress and huge amount of resources, in taking care of a Down syndrome patient. This disease has no cure. However, the parents, guardians and the patient are given some special education on how to properly take care of the child. The average life expectancy of an affected individual is around 50 to 60 years, with proper health care and support. On the hand, the life expectancy can be significantly low if the patient doesn’t have the right support and proper health care. There are some specialized therapy for males Down syndrome patient, affected with infertility, that could help them in becoming fertile. Further research is still being done on this.

What Are The Signs And Symptoms Of Down Syndrome?

People affected with Down syndrome do presents with various signs and symptoms. They usually do have delays in their physical development, infertility, intellectual disabilities, reduced function of the immune system, cardiovascular conditions and so on. Below are some of the common signs and symptoms of the disease;

  1. Delay in physical development: Persons affected with this disease tend to have achieved the physical, developmental milestones late. In addition to this, they also have some abnormal physical features. Some of these include having a poor muscle tone, flat nasal bridge, and a single crease of the palm. In addition, they also present with a small mouth and a large tongue. The large tongue of the patient might eventually lead to obstructive sleep apnea. This would occur because the large tongue would block the airway, whenever the patient is sleeping. They also experience dislocation of the hip joint. This might occur without any trauma. Most Down syndrome patients are short in stature and are also prone to developing obesity.
  2. Eye defect: Over half of Down syndrome patients do present with eye defects. The most common eye defect in these patients is strabismus. It is a condition in which the two eyes do not move together. Other eye conditions that are associated with this also include cataract, glaucoma and so on.
  3. Ear defect: Up to 90% of Down syndrome patients have hearing problems. This mostly occurs as a result of otitis media with effusion, and the infection of the ear. This ear infection might usually start about 12 months after the baby is born. It has been attributed to an impairment of the Eustachian tube. The accumulation of excess wax in the ear can also lead to the development of ear defect in Down syndrome patients.
  4. Neurological problems: As previously mentioned, Down syndrome patients do have a reduced intellectual capacity. However, they can still live a normal and productive life with the right support and proper health care. They do have a delay in achieving the developmental milestones. They also tend to understand languages than they speak them. They are prone to developing a neurological disease such as epilepsy, infantile spasms, and Alzheimer disease.
  5. Cardiovascular system: Down syndrome patients have a high risk of developing heart diseases. Some of these conditions include an atrioventricular septal defect, ventricular septal defect, and so on. On the other hand, they have a low risk of developing atherosclerosis, a condition in which the blood vessels are hardened.
  6. Cancer: Down syndrome patients have a high risk of developing cancer, especially blood cancer. Studies have shown that they are twenty times more likely to develop blood diseases such as acute lymphoblastic leukemia, and acute myeloid leukemia.

Causes of Down syndrome

Down syndrome is caused by a mutation in chromosome 21 of a child. Usually, people have 46 chromosomes. However, most Down patients have 47 chromosomes. This extra chromosome changes the way the body develops, leading to the syndromes and symptoms described above. The main reason for this mutation is not known. However, some risk factors have been identified that might increase the chances of being affected by this congenital disorder.

Risk Factors Of Down Syndrome

  • Age: This is a major risk factor as women who give birth at old age, most times, ages above 35 are prone to giving birth to kids with Down syndrome. There is actually a 30 times increase in the probability of a child developing Down’s syndrome whose mother is 45 years old compared to a child whose mother is 20.
  • Family history: People who have a relative or sibling that had the syndrome have a high chance of also giving birth to kids that’d have the disorder.
  • Previous medical history: Parents who had given birth to a child with Down syndrome, do have a high chance of giving birth to another child with the congenital disorder

How Is Down Syndrome Treated?

This disease has no cure. However, the child needs a regular checkup, and symptomatic treatments for any disease he/she might present with. In addition, down syndrome patients need a lot of support and care. It’s important to seek help if you don’t know how to take care of an affected child.


Benejam, B. (2009). Dementia Symptoms in Down Syndrome. International Medical Review on Down Syndrome, 13(2), pp.18-21.

Riquelme Agulló, I. and Manzanal González, B. (2006). Factors influencing motor development in children with Down syndrome. International Medical Review on Down Syndrome, 10(2), pp.18-24.

Riquelme Agulló, I. and Manzanal González, B. (2006). Factors influencing motor development in children with Down syndrome. International Medical Review on Down Syndrome, 10(2), pp.18-24.