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What is Down syndrome? What are the causes, symptoms and treatment?

04 August, 2020 Kratika Saxena


​Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. Developmental changes and physical changes are all caused or we can say dependent on this extra genetic material.

Down syndrome varies in severity among individuals, some can have a lifelong intellectual disability and late developmental or delays. It's the most common genetic chromosomal disorder and cause of growing and learning disabilities in children. It also commonly causes other medical abnormalities that we will come to know in this article.   

What causes Down syndrome?

In reproduction cases, children get genes from both parents. These genes are carried in chromosomes and here half of the chromosomes are of father and half of a mother. When the baby’s cells develop, each cell is supposed to receive 23 pairs of chromosomes, for 46 chromosomes total.

In the situation of Down syndrome, one of the chromosomes doesn’t separate properly. The baby ends up with three copies, or an extra partial copy, of chromosome 21, instead of two. This extra chromosome causes problems in brain development and physical features.


​Each person facing a Down syndrome is an individual. They face intellectual and developmental problems which may vary from mild to severe. If you see you will find some people are healthy while others have significant health problems such as serious heart defects.
Down syndrome adults and children have distinct facial features. Though not all people suffering with Down syndrome have the same features, some of the more common features include:

  • Flattened face
  • Small head
  • Short neck
  • Protruding tongue
  • Upward slanting eyelids (palpebral fissures)
  • Unusually shaped or small ears
  • Poor muscle tone
  • Broad, shorthands
  • Short fingers and small hands and feet
  • Excessive flexibility
  • Short height

There can be a delay in Mental and social development that the child could have:

  • impulsive behavior
  • poor judgment
  • short attention span
  • slow learning capabilities

Medical complications often accompany Down syndrome. These may include:

  • Heart defects- Children born with this syndrome almost half of them suffer from a congenital heart defect. This life-threatening heart may require surgery in early infancy.
  • Gastrointestinal (GI) defects. In some children with Down syndrome may include abnormalities of the intestines, esophagus, trachea, and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
  • Immune disorders. Due to the abnormalities in their immune systems, people with Down syndrome increases the risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.
  • Sleep apnea. A disorder of sleep in which breathing repeatedly stops and starts. This creates an obstruction in the airways because of soft tissues and skeletal changes.
  • Obesity. People with Down syndrome are more likely to get obesity problems as compared with the general population.
  • Spinal problems. In some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord.  
  • Leukemia. Risk rate of Leukemia increases in young children with Down syndrome.
  • Dementia. Chances of Increased risk of dementia — signs, and symptoms begin around age 50. This also increases the risk of developing other diseases called Alzheimer's disease.
  • Other problems. Some other health problems associated with Down syndrome are endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

           Getting infections frequently chances are much higher in down syndrome people. 
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Treating Down Syndrome

​There’s no specific cure for Down syndrome, but there’s a wide variety of support in the form of therapies and educational programs that help both people with the condition and their families. Nationwide programs are being organized to deal with this.
Available programs start with interventions in infancy. Some offer therapy programs for qualifying families. In these programs, special education teachers and therapists will help your child learn:

  • sensory skills
  • social skills
  • self-help skills
  • motor skills
  • language and cognitive abilities


Children with Down syndrome, they may learn more slowly than other children.
School is an important part of the life of any child.  Schooling gives them valuable socialization and helps in learning and building some important life skills.

There are many Public and private schools that support people with Down syndrome and their families with integrated classrooms and special education opportunities. For any medical prescription purchasing assistance, you can buy from 3MEDS online chemist pharmacy which is 24x7 available.