Down Syndrome is an autosomal genetic disease, or in simpler terms genetic disease where people are born with an extra chromosomes. Medically, an extra genetic material causes mutation in newly formed embryo, leading to Down Syndrome. This mutation of the genes changes the development of normal embryo and foetus resulting in physical and mental abnormalities.
There are mainly two types of Down syndrome; trisomy 21 and Mosaic Down Syndrome. The patient may have growth retardation and though as a baby may be normal size, will not grow as tall. Bow leg is common, decreased mental function, difficulty speaking and speech delay. Motor skills amongst the infants like crawling are slow to mature. Medical conditions associated with Down syndrome, including those affecting the heart or the gastrointestinal system, may require evaluation and care, sometimes requiring surgery.
Down syndrome symptoms are distinctive and found at early stages of life.
Characteristic Signs Of Down Syndrome
- Short neck
- Flat face
- Upward slanting eyes
- Flexible joints
- Lack of tone in the muscles
- Ears are flat and positioned lower than normal
- The tongue protrudes to seem larger for the mouth
- Hands tend to be wide and short fingers
Diagnosis And Treatment
Down syndrome is usually diagnosed while the foetus is still in the uterus through screening tests such as; amniocentesis and chorionic villus. Providing educational and support programs will help them manage well with the conditions. Treatment for a patient with Down syndrome is aimed at improving their quality of life.