Edwards syndrome
| Edwards syndrome | |
|---|---|
| Synonyms | trisomy 18 (T18), chromosome 18 duplication, trisomy E syndrome |
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| Chromosome 18 | |
| Classification and external resources | |
| Specialty | Medical genetics, pediatrics |
| ICD-10 | Q91.0-Q91.3 |
| ICD-9-CM | 758.2 |
| DiseasesDB | 13378 |
| MedlinePlus | 001661 |
| eMedicine | ped/652 |
| Patient UK | Edwards syndrome |
| MeSH | C580500 |
| Orphanet | 3380 |
Edwards syndrome, also known as trisomy 18, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
Most cases of Edwards syndrome occur due to problems during the formation of the reproductive cells or during early development. The rate of disease increases with the mother's age. Rarely cases may be inherited from a person's parents. Occasionally not all cells have the extra chromosome, known as mosaic trisomy, and symptoms in these cases may be less severe.Ultrasound can increase suspicion for the condition, which can be confirmed by amniocentesis.
Treatment is supportive. After having one child with the condition, the risk of having a second is typically around one percent. It is the second-most frequent condition due to a third chromosome at birth, after Down syndrome.
Edwards syndrome occurs in around one in 5,000 live births. Most babies born with the condition are female. Many of those affected die before birth. Survival beyond a year of life is around 7.5%. It is named after John Hilton Edwards, who first described the syndrome in 1960.
Children born with Edwards syndrome may have some or all of these characteristics: kidney malformations, structural heart defects at birth (i.e., ventricular septal defect, atrial septal defect, patent ductus arteriosus), intestines protruding outside the body (omphalocele), esophageal atresia, intellectual disability, developmental delays, growth deficiency, feeding difficulties, breathing difficulties, and arthrogryposis (a muscle disorder that causes multiple joint contractures at birth).
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