Down syndrome
It is a genetic disorder caused due to the abnormal cell divisions, which result in an extra partial or full copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome. Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders.
Symptoms:
- Flattened face
- Small head
- Short neck
- Protruding tongue
- Upward slanting eye lids (palpebral fissures)
- Unusually shaped or small ears
- Poor muscle tone
- Broad, short hands with a single crease in the palm
- Relatively short fingers and small hands and feet
- Excessive flexibility
- Tiny white spots on the colored part (iris) of the eye called Brushfield's spots
- Short height
Causes:
- Trisomy 21: This is caused due to abnormal cell division during the development of the egg cell or sperm cell.
- Mosaic Down syndrome: This mosaic of abnormal and normal cells caused due to the abnormal cell division after fertilization.
- Translocation Down syndrome: Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception.
Risk factors:
- Advancement of Maternal age
- Having had one child with Down syndrome: Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome.
Complications:
- Heart defects: About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
- GI (Gastrointestinal) defects: Abnormalities of the esophagus, intestines, trachea and anus, digestive problems, such as heartburn, GI blockage, or celiac disease may be increased.
- Immune disorders: Cancer, and infectious diseases, such as pneumonia.
- Sleep apnea: Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
- Obesity:
- Spinal problems: This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
- Leukemia: Young children with Down syndrome have an increased risk of leukemia.
- Dementia: People with Down syndrome have a greatly increased risk of dementia signs and symptoms may begin around age 50.
- Other health conditions: Such as dental problems, endocrine problems, seizures, ear infections and hearing and vision problems.
Diagnosis:
- Screening tests: This can be useful to indicate the chances or likelihood that a mother is carrying a baby with Down syndrome.
- Diagnostic tests: This can identify or diagnose whether your baby has Down syndrome.
Treatment: There is no single, standard treatment for Down syndrome.
