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| trisomy_18 [2025/09/29 14:41] – created Scott Larson | trisomy_18 [2026/01/26 22:15] (current) – Scott Larson | ||
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| ====== Trisomy 18 ====== | ====== 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, | ||
| + | * 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:// | ||
| + | ====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, | ||
| + | * CNS | ||
| + | * Cerebellar hypoplasia, choroid plexus cysts | ||
| + | ====Etiology==== | ||
| + | * chromosomal abnormality | ||
| + | ====Resources==== | ||
| + | * [[https:// | ||
| + | * [[https:// | ||
| + | * [[https:// | ||
| + | * Velzeboer CM, van der Harten JJ, Koole FD. Ocular pathology in trisomy 18. A histopathological report of three cases. Ophthalmic Paediatr Genet 1989; | ||
| + | |||
| + | {{tag> | ||