| H01564 | |
| H number | H01564 |
| Name | Edwards syndrome; Trisomy 18 |
| Description | Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age. |
| Category | Chromosomal abnormality |
| Network | - |
| Gene | - |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD40.2 ICD-10: Q91 MeSH: C580500 |
| Reference | PMID:26820816 AUTHORS Imataka G, Suzumura H, Arisaka O TITLE Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. JOURNAL Mol Med Rep 13:2457-66 (2016) DOI:10.3892/mmr.2016.4806 PMID:23088440 AUTHORS Cereda A, Carey JC TITLE The trisomy 18 syndrome. JOURNAL Orphanet J Rare Dis 7:81 (2012) DOI:10.1186/1750-1172-7-81 PMID:25598039 AUTHORS Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W TITLE Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. JOURNAL Ultrasound Obstet Gynecol 45:530-8 (2015) DOI:10.1002/uog.14792 |