The malformations presented in this section
were selected because of the frequency with which
they were reported and/or their clinical significance.
Rates are per 10,000 live births. The sex ratio is
calculated by dividing the rate in males by the rate
in females. The malformation rates presented in this
report may not be comparable to earlier reports.
Previous reports from 1989 to 1991 did not use birth
certificate matched cases, thus, the race and
birthweight from the birth certificate were not
available. Birthweight data are useful to calculate
the rate of some malformations such as patent
ductus arteriosus. In some cases, these conditions can result from being preterm rather than
actually having a malformation. Racial data in this
report also may not be comparable because race is
defined by maternal race from the birth certificate.
In the earlier reports, race was defined by what was
reported on the CMR form, which may differ from
what is recorded on the birth certificate.
Fluctuations in specific malformation
prevalence should be interpreted with caution,
especially differences in the "other" race category
since the numbers in this group are small. In
addition, several malformations were added in 1992
as a result of the change to the BPA code.
Previously, these could not be distinguished using
the ICD-9 codes. However, since ICD-9 codes are
more familiar to most vendors, the ICD-9 code is
given on the table with the named malformation.
See Appendix 4 for further information on the BPA
codes.
ICD-9
Code |
Malformations |
Total
Number |
Total
Prevalence |
Male |
Female |
Ratio
(M/F) |
White |
Black |
Other |
| 090 |
Congenital syphilis |
619 |
22.8 |
23.2 |
22.5 |
1.0 |
10.3 |
71.3 |
11.7 |
| 243 |
Congenital hypothyroidism |
81 |
3.0 |
3.2 |
2.8 |
1.1 |
2.4 |
4.9 |
3.5 |
| 270.1 |
Phenylketonuria |
3 |
0.1 |
0.1 |
0.2 |
0.5 |
0.2 |
0.0 |
0.0 |
| 277.0 |
Cystic fibrosis |
26 |
1.0 |
1.2 |
0.8 |
1.5 |
1.2 |
0.4 |
0.0 |
| 282.6 |
Sickle-cell anemia |
94 |
3.5 |
3.5 |
3.4 |
1.0 |
0.4 |
15.7 |
0.0 |
| 658.8 |
Amniotic bands |
8 |
0.3 |
0.1 |
0.5 |
0.3 |
0.4 |
0.2 |
0.0 |
| 740.0 |
Anencephalus |
16 |
0.6 |
0.5 |
0.7 |
0.7 |
0.7 |
0.2 |
1.2 |
| 741.0 |
Spina bifida with hydrocephalus |
52 |
1.9 |
1.8 |
2.0 |
0.9 |
1.7 |
2.7 |
2.3 |
| 741.9 |
Spina bifida without hydrocephalus |
48 |
1.8 |
1.7 |
1.9 |
0.9 |
1.7 |
1.3 |
4.1 |
| 742.0 |
Encephalocele |
26 |
1.0 |
0.8 |
1.1 |
0.7 |
0.8 |
1.1 |
2.3 |
| 742.1 |
Microcephalus |
158 |
5.8 |
5.1 |
6.6 |
0.8 |
4.3 |
11.5 |
5.3 |
| 742.2 |
Agyria & lissencephaly |
5 |
0.2 |
0.2 |
0.2 |
1.4 |
0.2 |
0.2 |
0.0 |
| 742.2 |
Anomalies of corpus callosum |
42 |
1.5 |
1.9 |
1.1 |
1.7 |
1.5 |
2.0 |
1.2 |
| 742.2 |
Holoprosencephaly |
10 |
0.4 |
0.4 |
0.3 |
1.4 |
0.4 |
0.2 |
1.2 |
| 742.3 |
Congenital hydrocephalus |
184 |
6.8 |
7.6 |
5.9 |
1.3 |
6.5 |
7.7 |
7.6 |
| 742.4 |
Porencephaly |
12 |
0.4 |
0.5 |
0.4 |
1.3 |
0.5 |
0.5 |
0.0 |
| 742.5 |
Congenital tethered cord |
26 |
1.0 |
0.6 |
1.4 |
0.4 |
1.2 |
0.4 |
0.0 |
| 743.0 |
Anophthalmos |
12 |
0.4 |
0.5 |
0.4 |
1.3 |
0.4 |
0.5 |
0.6 |
| 743.1 |
Microphthalmos |
36 |
1.3 |
1.4 |
1.2 |
1.2 |
1.2 |
1.4 |
2.3 |
| 743.2 |
Glaucoma |
16 |
0.6 |
0.7 |
0.5 |
1.6 |
0.5 |
0.9 |
0.6 |
| 743.3 |
Absence of lens |
3 |
0.1 |
0.1 |
0.1 |
1.9 |
0.2 |
0.0 |
0.0 |
| 743.3 |
Congenital cataract |
41 |
1.5 |
1.6 |
1.4 |
1.1 |
1.6 |
1.6 |
0.6 |
| 743.45 |
Aniridia |
2 |
0.1 |
0.1 |
0.0 |
-.- |
0.1 |
0.0 |
0.0 |
| 743.46 |
Coloboma of iris |
5 |
0.2 |
0.3 |
0.1 |
3.8 |
0.3 |
0.0 |
0.0 |
| 744.0 |
Anotia/microtia |
31 |
1.1 |
1.2 |
1.1 |
1.2 |
1.3 |
0.5 |
1.2 |
| 745.0 |
Common truncus |
20 |
0.7 |
0.8 |
0.7 |
1.2 |
0.7 |
1.1 |
0.6 |
| 745.1 |
Transposition of great vessels |
130 |
4.8 |
5.7 |
3.9 |
1.5 |
4.7 |
5.2 |
5.3 |
| 745.2 |
Tetralogy of Fallot |
129 |
4.8 |
4.9 |
4.6 |
1.1 |
4.6 |
5.6 |
4.7 |
| 745.3 |
Common ventricle |
28 |
1.0 |
1.6 |
0.5 |
3.5 |
0.9 |
1.6 |
0.6 |
| 745.4 |
Ventricular septal defect |
936 |
34.5 |
33.2 |
35.9 |
0.9 |
36.3 |
29.7 |
33.9 |
| 745.5 |
Ostium secundum type atrial septal def. |
959 |
35.4 |
34.3 |
36.5 |
0.9 |
32.9 |
47.0 |
30.4 |
| 745.6 |
Endocardial cushion defects |
77 |
2.8 |
2.7 |
2.9 |
0.9 |
3.2 |
1.8 |
2.3 |
| 746.0 |
Atresia/stenosis of pulmonary valve |
290 |
10.7 |
11.2 |
10.2 |
1.1 |
9.4 |
16 |
9.9 |
| 746.1 |
Tricuspid atresia/stenosis/hypoplasia |
40 |
1.5 |
1.9 |
1.1 |
1.8 |
1.4 |
2.0 |
0.6 |
| 746.2 |
Ebstein's anomaly |
11 |
0.4 |
0.4 |
0.4 |
1.1 |
0.5 |
0.2 |
0.0 |
| 746.3 |
Congenital stenosis of aortic valve |
43 |
1.6 |
2.3 |
0.8 |
2.8 |
1.9 |
0.9 |
0.0 |
| 746.7 |
Hypoplastic left heart syndrome |
55 |
2.0 |
2.2 |
1.8 |
1.2 |
2.0 |
2.2 |
1.8 |
| 746.85 |
Anomalies of coronary artery |
21 |
0.8 |
0.9 |
0.7 |
1.3 |
0.7 |
1.3 |
0.6 |
| 747.0 |
Patent ductus arteriosis |
188 |
6.9 |
6.1 |
7.9 |
0.8 |
6.4 |
8.1 |
10.5 |
| 747.1 |
Coartation of aorta |
110 |
4.1 |
5.1 |
2.9 |
1.7 |
4.6 |
2.7 |
2.3 |
| 747.41 |
Total anomalous pulmonary venus connect. |
17 |
0.6 |
0.6 |
0.6 |
1.1 |
0.8 |
0.4 |
0.0 |
| 748.0 |
Choanal atresia |
28 |
1.0 |
1.2 |
0.8 |
1.5 |
1.2 |
0.5 |
0.6 |
| 748.5 |
Agenesis/hypoplasia of lung |
98 |
3.6 |
3.9 |
3.3 |
1.2 |
3.3 |
4.7 |
4.7 |
| 749.0 |
Cleft palate |
156 |
5.8 |
4.8 |
6.8 |
0.7 |
6.2 |
4.5 |
5.3 |
| 749.1 |
Cleft lip |
84 |
3.1 |
4.0 |
2.2 |
1.8 |
3.6 |
1.6 |
2.9 |
| 749.2 |
Cleft palate & lip |
125 |
4.6 |
5.3 |
3.9 |
1.4 |
5.1 |
3.2 |
3.5 |
| 750.3 |
Tracheoesophageal fistula etc. |
64 |
2.4 |
2.9 |
1.8 |
1.6 |
2.9 |
0.9 |
1.2 |
| 750.5 |
Congenital hypertrophic pyloric stenosis |
449 |
16.6 |
26.8 |
5.9 |
4.5 |
20.3 |
7.4 |
5.3 |
| 751.1 |
Atresia and stenosis of small intestine |
78 |
2.9 |
2.8 |
2.9 |
1.0 |
2.4 |
4.5 |
2.9 |
| 751.2 |
Atresia and stenosis of rectum or anus |
113 |
4.2 |
4.2 |
4.2 |
1.0 |
4.1 |
4.1 |
5.8 |
| 751.3 |
Hirschsprungs disease |
48 |
1.8 |
2.3 |
1.2 |
1.9 |
1.7 |
1.6 |
2.9 |
| 751.4 |
Anomalies of intestinal fixation |
50 |
1.8 |
2.2 |
1.4 |
1.6 |
1.6 |
1.4 |
5.8 |
| 751.61 |
Biliary atresia |
18 |
0.7 |
0.7 |
0.6 |
1.2 |
0.6 |
0.9 |
0.6 |
| 752.6 |
Epispadias |
28 |
1.0 |
2.0 |
0.0 |
-.- |
0.7 |
2.2 |
1.2 |
| 752.6 |
Hypospadias |
886 |
32.7 |
63.8 |
0.2 |
422.5 |
35.6 |
27 |
21 |
| 753.0 |
Renal agenesis and dysgenesis |
89 |
3.3 |
3.9 |
2.6 |
1.5 |
3.9 |
1.8 |
1.8 |
| 753.1 |
Cystic kidney disease |
146 |
5.4 |
6.9 |
3.9 |
1.8 |
5.3 |
6.3 |
4.1 |
| 753.2 |
Obstructive defect renal pelvis & ureter |
577 |
21.3 |
31.5 |
10.6 |
3.0 |
24 |
12.1 |
22.8 |
| 753.5 |
Extrophy of urinary bladder |
5 |
0.2 |
0.2 |
0.2 |
1.4 |
0.2 |
0.4 |
0.0 |
| 753.6 |
Atresia & stenosis of urethra & bladder |
38 |
1.4 |
2.6 |
0.2 |
17.2 |
1.1 |
2.2 |
2.9 |
| 754.3 |
Congenital dislocation of hip |
395 |
14.6 |
7.1 |
22.3 |
0.3 |
16.9 |
6.1 |
16.4 |
| 754.51 |
Talipes equinovarus |
315 |
11.6 |
14.6 |
8.5 |
1.7 |
11.8 |
11.5 |
11.1 |
| 755.2 |
Reduction deformities of upper limb |
81 |
3.0 |
2.8 |
3.2 |
0.9 |
3.7 |
1.1 |
1.2 |
| 755.3 |
Reduction deformities of lower limb |
51 |
1.9 |
2.1 |
1.7 |
1.3 |
1.7 |
2.3 |
2.3 |
| 755.8 |
Arthrogryposis multiplex congenita |
42 |
1.5 |
1.4 |
1.7 |
0.9 |
1.4 |
2.5 |
0.6 |
| 756.0 |
Craniosynostosis |
109 |
4.0 |
5.4 |
2.6 |
2.1 |
4.6 |
1.8 |
4.7 |
| 756.0 |
Goldenhar syndrome |
11 |
0.4 |
0.2 |
0.6 |
0.4 |
0.5 |
0.4 |
0.0 |
| 756.4 |
Chonodrodystrophy |
31 |
1.1 |
1.2 |
1.1 |
1.0 |
1.2 |
0.7 |
2.3 |
| 756.51 |
Osteogenesis imperfecta |
7 |
0.3 |
0.1 |
0.4 |
0.4 |
0.3 |
0.2 |
0.0 |
| 756.6 |
Diaphragmatic hernia |
54 |
2.0 |
2.4 |
1.6 |
1.5 |
1.8 |
2.0 |
4.1 |
| 756.7 |
Gastroschisis |
33 |
1.2 |
1.3 |
1.1 |
1.1 |
1.5 |
0.5 |
0.6 |
| 756.7 |
Omphalocele |
33 |
1.2 |
1.3 |
1.1 |
1.1 |
1.2 |
1.1 |
1.8 |
| 756.7 |
Prune belly |
4 |
0.1 |
0.3 |
0.0 |
-.- |
0.2 |
0.0 |
0.0 |
| 758.0 |
Down syndrome |
273 |
10.1 |
10.2 |
9.9 |
1.0 |
10.3 |
8.8 |
12.3 |
| 758.1 |
Patau syndrome |
21 |
0.8 |
0.9 |
0.7 |
1.3 |
0.9 |
0.5 |
0.6 |
| 758.2 |
Edwards syndrome |
33 |
1.2 |
0.8 |
1.7 |
0.5 |
1.0 |
1.8 |
1.8 |
| 758.6 |
Gonadal dysgenesis |
20 |
0.7 |
0.3 |
1.2 |
0.2 |
0.8 |
0.4 |
1.8 |
| 758.7 |
Klinefelter syndrome |
15 |
0.6 |
1.1 |
0.0 |
-.- |
0.6 |
0.5 |
0.6 |
| 759.3 |
Situs inversus |
15 |
0.6 |
0.4 |
0.8 |
0.5 |
0.6 |
0.5 |
0.6 |
| 760.71 |
Fetal alcohol syndrome |
56 |
2.1 |
2.4 |
1.7 |
1.4 |
1.1 |
6.1 |
0.6 |
| 771.0 |
Congenital rubella |
2 |
0.1 |
0.1 |
0.1 |
1.0 |
0.1 |
0.2 |
0.0 |
| 771.1 |
Congenital cytomegalovirus infection |
37 |
1.4 |
1.4 |
1.3 |
1.1 |
1.1 |
2.3 |
1.8 |
| 771.2 |
Other congenital infections |
61 |
2.3 |
2.0 |
2.5 |
0.8 |
1.7 |
4.9 |
0.0 |
