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Down syndrome is a congenital genetic disorder. This is the most common congenital disorder. It is caused as a result of the mutation of the chromosome 21. The disease is also known as trisomy 21, because of the defect in the chromosome. The syndrome is a group of mental, psychological, and physical traits, which is caused by a mutation in the chromosome. People affected by this disorder usually presents with some special physical features, such as a short neck, flat face, impairment in intellectual abilities, and a reduction in physical growth. This disease can be detected during pregnancy, by undergoing a prenatal screening, which can be confirmed by doing a genetic test. This congenital disorder has no cure, however, the patients can be managed. Children born with this disorder can grow and have a meaningful life. They can successfully attend school and do really well. Partakers in the stem cell business are working towards a therapy for this disease.

What Are The Signs And Symptoms Of Down Syndrome?

People affected by Down syndrome mostly present with physical and intellectual impairments. Adult Down syndrome patients usually have the intellect of a child. In addition, they do have a weakened immune system. Also, their growth rate is slow. They are predisposed to many other diseases such as cardiovascular diseases, blood disorders, endocrine disorders, and mental issues. Below are some of the common signs and symptoms of the Down syndrome;

  1. Physical: People affected by Down syndrome do have an alteration in their physical appearance. For example, most of them would typically have slanted eyes, small-sized chin, weak muscle tonicity, flat nasal bridge, large-sized tongue, and a single crease of the Palm. They might also experience sleep apnea, mostly due to the obstruction of their airways. In addition, they do have problems with their joints. This is the reason many people with the disorder do experience skeletal problems such as joint dislocation, instability of the joints, vertebral injuries and so on. Also, they do have a slow growth rate. This is why they tend to achieve the developmental milestones later in their lives. In addition, they are prone to being overweight and becoming obese.
  2. Senses: Down syndrome patients typically do have impairments of their special senses. As an illustration, up to 80% of people affected by this disease present with visual problems. Some of the common visual problems include strabismus, cataracts and so on. In addition, they also have auditory problems. This occurs in about 55-90% of all children born with down syndrome. Examples of common ear disorders prevalent in Down syndrome patients are otitis media with effusion, ear infections and so on.
  3. Neurological Problems: Majority of Down syndrome patients do have an intellectual There have been studies that have shown that they generally have a low intelligent quotient. However, this would depend on the severity of the disorder. It’s common for people affected by this congenital disorder to have problems speaking and learning languages. However, they do alright in social interactions. It is also common for children affected by this disorder to have seizures, and other neurological problems.
  4. Cardiovascular problems: About 40% of Down syndrome patients do present with heart diseases. A majority of this number would have a heart septal defect; which could either be an Atrial septal defect or a ventricular septal defect, however, it’s more common to see the atrial septal defect. Other heart disorders that are associated with Down syndrome are Tetralogy of Fallot, Patent ductus arteriosus.
  5. Cancer: Down syndrome patients are more predisposed to having some cancer diseases, such as testicular cancer, leukemia. As an illustration, blood-related cancers are about ten to fifteen times more predominant in children with this syndrome.
  6. Endocrine disorders: Thyroid gland diseases are common in people affected by Down syndrome. The most prevalent is hypothyroidism. This occurs in about 50% of all cases. This might be as a result of the malfunction of the gland at childbirth. Other endocrine diseases include Diabetes mellitus. This is a pancreas impairment, that leads to the low production of insulin in the body.
  7. Fertility: Down syndrome adults have a problem with fertility. For example, male adults are usually not capable of fathering a child, on the other hand, the female adults have a chance, but a low rate of fertility. In addition, it has been discovered that menopause occurs rapidly in female adults
  8. Gastrointestinal system: Constipation and another disease like Hirschsprung disease are common conditions that occur in Down syndrome patients. Other diseases that are common are Meckel’s diverticulum, duodenal atresia, celiac disease and so on.

                        What are the causes of Down syndrome?

Down syndrome is caused by a mutation in the 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.

What Are The Risk Factors For Down Syndrome?

  1. Age: Women who give birth at old age, most times, ages above 35 are prone to giving birth to kids with Down syndrome.
  2. 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.
  3. 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 Currently 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.

Stem cell therapy and Down syndrome

Some trials have proven that kids given stem cell treatment improved significantly, especially in their physical appearance. For example, the kids treated with stem cells showed an improved muscle tonicity,  developed intellect and better understanding. Stem cell therapy has a lot of potential in the treatment of Down syndrome.


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.

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