Signs of Down syndrome

Down Syndrome

Description

A genetic disorder that causes developmental delays, mental retardation and other difficulties. The disorder occurs in 1 in 700 births and is the most common disability causing severe learning disabilities. The cause of the disorder is an extra chromosome 21 (trisomy) or extra genetic material on the 21st chromosome. Advanced maternal age and having a previous child with Downs increases the likelihood of having another child with Downs. Children with this disorder have an increased incidence of heart defects, leukemia, infections, sleep apnea, and decreased life expectancy.

Symptoms

Symptoms can vary but include: mental retardation, smaller than average head, rounded inner corner of eyes, decreased muscle tone, increased skin at the back of the neck, flat nose, small ears, small ears, short hands and fingers.

Tests

A history and physician will be done. Screening tests can be done during pregnancy that can identify mother's carrying children with Downs before birth. These can be done as early as the 11th week of pregnancy. These pre-screening tests are usually a blood test and/or an ultrasound. The diagnosis is confirmed by identifying the extra chromosome 21 using amniocentesis, chorionic villus sampling or percutaneous umbilical blood sampling.

Standard Workup