Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Trisomy 18 ====== a.k.a Edwards syndrome ====Main Features==== * Constellation of congenital anomalies affecting multiple organ systems (face, cardiac, renal, GI, CNS) * Characteristic physical features * Small head, micrognatia, low-set malformed ears, overlapping fingers rocker bottom feet * Short sternum, underdeveloped thumbs, small fingernails * Neurologic impairment with severe psychomotor and cognitive disability * Feeding difficulty and failure to thrive * High infant mortality * most infants die in the first year of life * [[https://my.clevelandclinic.org/-/scassets/images/org/health/articles/22172-edwards-syndrome|Cleveland Clinic Image Summary]] ====Eye Findings==== * Present in 8-10% * Microphthalmia * Strabismus * Corneal opacities, Microcornia * Glaucoma * Iris or choroid coloboma * Cataract * Anterior segment dysgenesis * Eyelids * Ptosis * epicanthus * hypertelorism * Nystagmus reported but more rare, often in the setting of brain malformation * Retinal vascular tortuosity ====Other Findings==== * Cardiac * VSD, ASD, PDA * Complex anomalies * Renal * GI * omphalocele, TE fistula * CNS * Cerebellar hypoplasia, choroid plexus cysts ====Etiology==== * chromosomal abnormality ====Resources==== * [[https://medlineplus.gov/genetics/condition/trisomy-18/|Medline Plus Trisomy 18]] * [[https://pubmed.ncbi.nlm.nih.gov/26347425/|Congenital Anomalies associated with Trisomy 18 or Trisomy 13: A registry-based study in 16 European countries, 2000-2011. Springett A. et al. Am J Med Genet A. 2015 (12):3062-3069.]] * [[https://1drv.ms/b/c/31D83AE8E55E0542/AeixkAJ_9W5ApAulfN9vp6M?e=hwnAUH|A Case of Anterior Segment Dysgenesis with Iridolenticular Adhesions in Trisomy 18. Atwal PS. J Pediatr Genet 2015;4:207-208.]] * Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet 1989;10(4):263–269 {{tag>syndrome}} syndrome