Trisomy E

Overview

Related Key Words and Synonyms: Edwards syndrome, Edwards' syndrome, trisomy 18 syndrome, trisomy E syndrome, severe psychomotor retardation, severe growth retardation, microcephaly, microphthalmia, malformed ears, micrognathia, retrognathia, microstomia, clenched fingers, congenital malformations, cardiac malformations, renal malformations, polyhydramnios, oligohydramnios, small placenta, single umbilical artery, intrauterine growth retardation, weak fetal activity, fetal distress, delayed psychomotor development, mental retardation, neonatal hypotonia, cerebellar hypoplasia, meningoencephalocele, anencephaly, hydrocephaly, holoprosencephaly, Arnold-Chiari malformation, hypoplasia of corpus callosum, aplasia of corpus callosum, defective falx cerebri, frontal lobe defect, migration defect, arachnoid cyst, myelomeningocele, ocular hypertelorism, epicanthal folds, short palpebral fissures, iris coloboma, cataract, corneal clouding, abnormal retinal pigmentation, short nose with upturned nares, choanal atresia, narrow palatal arch, cleft lip, cleft palate, preauricular tags, camptodactyly, limited hip abduction, narrow pelvis, short sternum, short neck with excessive skin folds, dorsiflexed great toes, hypoplastic nails, radial aplasia, radial hypoplasia, thumb aplasia, syndactyly of the second and third digits, arthrogryposis, rocker-bottom feet with prominent calcanei, talipes equinovarus, ventricular septal defects, poly-valvular heart disease, pulmonary valve defects, aortic valve defects, atrial septal defects, patent ductus arteriosus, overriding aorta, coarctation of aorta, hypoplastic left heart syndrome, tetralogy of Fallot, transposition of great arteries, pulmonary hypoplasia, abnormal lobation of lung, omphalocele, malrotation of the intestine, ileal atresia, common mesentery, Meckel diverticulum, esophageal atresia, tracheoesophageal fistula, diaphragmatic eventration, prune belly anomaly, diastasis recti, absent gallbladder, absent appendix, accessory spleens, exstrophy of Cloaca, pyloric stenosis, imperforate anus, malpositioned anus, pilonidal sinus, hernias, micro multicystic kidneys, double ureters, megaloureters, hydroureters, hydronephrosis, horseshoe kidneys, unilateral renal agenesis, cryptorchidism, hypospadias, micropenis, hypoplasia of labia, hypoplasia of ovaries, hypoplastic ovaries, clitoral hypertrophy, bifid uterus, thymic hypoplasia, thyroid hypoplasia, adrenal hypoplasia, clinodactyly of the fifth fingers, single flexion crease, transverse palmar crease, increased atd angle, postzygotic mitotic errors

Acknowledgements

The content on this page was first contributed by: C. Michael Gibson, M.S., M.D.