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. Author manuscript; available in PMC: 2021 Nov 1.
Published in final edited form as: Am J Med Genet A. 2020 Sep 4;182(11):2581–2593. doi: 10.1002/ajmg.a.61830

TABLE 5.

Co-occurring defect combinations among cases with non-syndromic omphalocele (N = 404) with adjusted O/Ea ratio > 10, Texas Birth Defects Registry, 1999–2014b

Defects Adjusted O/Ea ratio No. of co-occurring cases
Atresia and stenosis of the large intestine rectum and anal canal; disorder of sexual development; other deformities of feet (e.g., clubfoot, not otherwise specified) 199.3c 3
Spina bifida; atresia and stenosis of the large intestine rectum and anal canal; disorder of sexual development 198.2c 3
Spina bifida; disorder of sexual development 162.3c,d 5
Disorder of sexual development; other anomalies of the lower limb including pelvic girdle 136.7 4
Spina bifida; atresia and stenosis of the large intestine rectum and anal canal; obstructive defects of renal pelvis and ureter 102.6c 4
Spina bifida; atresia and stenosis of the large intestine rectum and anal canal; other deformities of feet 98.2c 4
Microcephalus; disorder of sexual development 92.1 3
Atresia and stenosis of large intestine rectum and anal canal; disorder of sexual development 75.1c 5
Spina bifida; atresia, and stenosis of large intestine rectum and anal canal 62.3c,d 9
Craniorachischisis 61.5 3
Disorder of sexual development; other deformities of feet 58.7c,d 3
Persistent omphalomesenteric duct 58.0 12
Obstructive defects of renal pelvis and ureter; anomalies of adrenal gland 56.5c 3
Spina bifida; other specified anomalies of ureter; Varus (inward) deformities of feet 46.3c 3
Other anomalies of the aorta; anomalies of gallbladder bile ducts and liver 41.6 3
Anomalies of intestinal fixation; renal agenesis and dysgenesis 40.9c 4
Spina bifida; other anomalies of intestine 29.6c 3
Microcephalus; atresia and stenosis of the large intestine rectum and anal canal 29.5c 5
Atresia and stenosis of the large intestine rectum and anal canal; other deformities of feet 28.8d 7
Other deformities of feet; anomalies of spine 23.8 7
Renal agenesis and dysgenesis; anomalies of diaphragm 23.7 3
Anomalies of gallbladder bile ducts and liver; obstructive defects of renal pelvis and ureter 23.0c 3
Exstrophy of urinary bladder 20.7 4
Other unspecified anomalies of face and neck; other deformities of feet 20.3c,d 3
Disorder of sexual development 19.8d 15
Other specified anomalies of the heart; anomalies of the diaphragm 19.6 4
Other anomalies of the lower limb including pelvic girdle; anomalies of the spine 18.3 4
Spina bifida; renal agenesis and dysgenesis 17.9c 3
Anomalies of urachus 17.4 8
Other specified anomalies of the brain; ventricular septal defect; ostium secundum type atrial septal defect 16.7 3
Anomalies of great veins; anomalies of intestinal fixation 16.1 3
Ventricular septal defect; anomalies of diaphragm 14.5 6
Other specified anomalies of ureter; Varus (inward) deformities of feet 14.4c,d 3
Other anomalies of the intestine; obstructive defects of renal pelvis and ureter 14.1 5
Other anomalies of the aorta; anomalies of intestinal fixation 13.1 3
Multiple congenital anomalies 12.7 5
Spina bifida; anomalies of spine 12.2c 3
Anomalies of intestinal fixation; obstructive defects of renal pelvis and ureter 12.0 3
Transposition of great vessels; ventricular septal defect; anomalies of pulmonary valve; other specified anomalies of the heart 11.2 3
Other unspecified anomalies of face and neck; ventricular septal defect 11.1 4
Atresia and stenosis of the large intestine rectum and anal canal; other anomalies of the intestine 10.6 4
Ventricular septal defect; atresia and stenosis of small intestine 10.4 3
Transposition of great vessels; ostium secundum type atrial septal defect; anomalies of pulmonary valve; other specified anomalies of the heart 10.1 4
a

O/E, observed-to-expected.

b

Combinations with <3 cases were excluded.

c

After conducting a sensitivity analysis with exclusion of cases highly suggestive of OEIS or OIS, this combination was no longer among the top results.

d

Denotes defect combinations accounted for in higher-order combinations (e.g., the combination of defects A and B accounted for in the higher-order combination of defects A, B, and C).