Children with Down syndrome often have unique physical characteristics, especially in their facial features. These distinctive traits make them look different from other children. What causes children with Down syndrome to have these distinctive facial features? Let's find out more!

Causes of Distinctive Facial Features in Down Syndrome

The distinctive facial features of children with Down syndrome are due to a genetic condition known as trisomy 21. In this condition, the child has three copies of chromosome 21 instead of the usual two. This extra chromosome disrupts the normal function of cells and tissues in the body, including facial structures. Genes located on this additional chromosome affect the development of bones, muscles, and soft tissues in the face, resulting in unique physical traits.

Facial Features of Children with Down Syndrome
From birth, children with Down syndrome exhibit several distinctive facial characteristics, including:

1. Almond-shaped eyes with an epicanthal fold.
2. A relatively flat face, especially around the nose area. A flat and broad nasal bridge.
3. Smaller ears that are often set lower.
4. A small mouth with a protruding tongue.
5. A short neck, sometimes with extra folds.
6. Teeth that grow unevenly or with unusual spacing.

Early Detection of Down Syndrome
The distinctive facial features of children with Down syndrome can serve as an initial clue for detecting this condition. However, early detection can also be done through several methods during pregnancy, such as:

• Prenatal Screening
  This screening does not provide a definitive diagnosis but can identify a high or low risk for Down syndrome. For example, blood tests during the first and second trimesters of pregnancy or Non-Invasive Prenatal Testing (NIPT).
• Prenatal Diagnostic Tests
  If screening results indicate a high risk, more invasive diagnostic tests, such as Chorionic Villus Sampling (CVS) or Amniocentesis, can be performed for a more definitive diagnosis.
• Postnatal Examination
  If not detected during pregnancy, Down syndrome can be diagnosed after birth through physical examination and genetic testing.
• Genetic Counseling
  For couples at high risk, such as older mothers or those with a family history of Down syndrome, genetic counseling is highly recommended to understand the risks and available testing options.