Down syndrome (common genetic disorder)

Description A genetic disorder ...

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 condition 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 Down syndrome increases the likelihood of having another child with the condition. Children with this disorder have an increased risk of heart defects, leukemia, infections, sleep apnea, and have a 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, short hands and fingers.

Tests

Common tests used for diagnosis and treatment

Workup:
A history and physical examination will be done. Screening tests done during pregnancy can identify mothers carrying children with Downs syndrome. These tests can be done as early as the 11th week of pregnancy, and include a blood test and/or an ultrasound. The diagnosis is confirmed by identifying the extra chromosome 21 inside the baby's cells. These cells are obtained by amniocentesis, chorionic villus sampling or percutaneous umbilical blood sampling.

Tests:
Ultrasound

Other Specific Tests: Amniocentesis, chorionic villus sampling, percutaneous umbilical blood sampling

Specialists:
Internal Medicine, Pediatrics, Obstetrics and Gynecology, Family Practice, Neonatal and Perinatal Medicine

Treatment

Early intervention can improve the function and life expectancy of the child. There is no specific cure.