Medical Author: Charles Patrick Davis, MD, PhD
Medically Reviewed on 9/14/2022
Doctor's Notes on Trisomy 18 (Edwards Syndrome)
Trisomy 18 (Edwards syndrome) is a severe genetic disorder where patients have an extra copy of chromosome 18. Trisomy 18 leads to severe intellectual disability and abnormalities in many organs. The prognosis of trisomy 18 is poor. Half of those affected do not live beyond the first week of life and a low percentage of infants with this condition live beyond the first year.
Common symptoms of trisomy 18 (Edwards syndrome) include
- birth defects such as low birth weight,
- small jaw and mouth;
- abnormally shaped, small head;
- overlapping fingers and clenched fists;
- “rocker-bottom” feet,
- low-set ears, and
- defects in the heart and other organs.
Symptoms of trisomy 18 in infants who survive include
- poor feeding,
- respiratory problems,
- delayed growth,
- mental impairment, and
- other life-threatening complications.
What is the treatment for trisomy 18?Unfortunately, there are no treatments or cures for trisomy 18. Researchers do not know how to prevent the problem. At best, treatments are for symptoms such as heart problems, breathing, and infections. The prognosis is poor; only about 10% survive to age 1. Support for parents and others is available with organizations like the Trisomy 18 foundation.
Must Read Articles:
Can Babies with Trisomy 18 Survive?Trisomy 18 (also called Edwards syndrome) is a condition that occurs when there is an error in cell division called meiotic disjunction. When meiotic disjunction occurs, instead of a normal pair of chromosomes, an extra chromosome 18 occurs (a triple) in a developing baby which disrupts normal development in significant ways that can be life-threatening, even before birth.
Genetic (Hereditary) Diseases: Types and List ExamplesGenetic diseases and disorders are caused by a change in the DNA sequence. The 4 types of genetic diseases are; 1) single-gene inheritance (monogenic disorder); 2) mutations in multiple genes (multifactorial inheritance disorder; 3) damage to chromosomes or chromosome abnormalities, and 4) mitochondrial genetic inheritance disorders caused by gene mutations and environmental factors. A list of examples of genetic diseases or disorders include cystic fibrosis, sickle-cell anemia, Maple syrup urine disease, and Down syndrome.
Pregnancy Week by WeekPregnancy occurs when an egg is fertilized by a sperm, grows inside a woman's uterus (womb), and develops into a baby. In humans, this process takes about 280 days.
Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.