Congenital Malformations Registry - Summary Report

Section III
Prevalence of Selected Malformations By Sex and Race

Introduction to Tables

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.

Section III
Children With Selected Malformations
Prevalences per 10,000 Live Births by Sex & Race
1998 Births– New York State Residents
ICD-9
Code
Malformation Total
Number
Total
Prevalence
Male Female Ratio
(M/F)
White Black Other
243 Congenital hypothyroidism 54 2.1 2.2 2.0 1.1 2.0 2.2 2.6
270.1 Phenylketonuria 2 0.1 0.0 0.2 0.0 0.1 0.2 0.0
277.0 Cystic fibrosis 27 1.0 1.0 1.1 0.9 1.2 0.7 0.0
282.6 Sickle-cell anemia 142 5.5 5.8 5.2 1.1 0.7 23.8 0.5
740.0 Anencephalus 5 0.2 0.2 0.2 0.6 0.1 0.6 0.0
741.0 Spina bifida with hydrocephalus 25 1.0 0.9 1.0 0.9 0.9 1.5 0.0
741.9 Spina bifida without hydrocephalus 43 1.7 1.8 1.5 1.2 1.7 1.8 0.5
742.0 Encephalocele 10 0.4 0.2 0.6 0.2 0.4 0.4 0.0
742.1 Microcephalus 141 5.5 4.2 6.8 0.6 4.2 10.0 4.7
742.2 Agyria & lissencephaly 8 0.3 0.5 0.2 2.8 0.3 0.2 0.5
742.2 Anomalies of corpus callosum 37 1.4 1.7 1.2 1.4 1.6 0.6 2.1
742.2 Holoprosencephaly 15 0.6 0.5 0.7 0.6 0.5 0.9 0.0
742.3 Congenital hydrocephalus 193 7.5 8.2 6.8 1.2 6.4 10.7 8.4
742.4 Porencephaly 7 0.3 0.3 0.2 1.3 0.2 0.6 0.5
742.5 Congenital tethered cord 20 0.8 0.8 0.8 0.9 0.9 0.4 0.5
743.0 Anophthalmos 3 0.1 0.1 0.2 0.5 0.1 0.2 0.0
743.1 Microphthalmos 17 0.7 0.7 0.6 1.1 0.8 0.4 0.5
743.2 Glaucoma 21 0.8 0.8 0.8 1.0 0.5 1.3 2.1
743.3 Absence of lens 3 0.1 0.2 0.1 1.9 0.1 0.2 0.0
743.3 Congenital cataract 36 1.4 1.4 1.4 0.9 1.5 1.7 0.0
743.45 Aniridia 4 0.2 0.1 0.2 0.3 0.2 0.0 0.0
743.46 Coloboma of iris 4 0.2 0.2 0.1 2.8 0.2 0.0 0.5
744.0 Anotia/microtia 20 0.8 1.0 0.6 1.8 0.9 0.2 1.0
745.0 Common truncus 14 0.5 0.5 0.6 0.7 0.5 0.7 0.0
745.1 Transposition of great vessels 100 3.9 5.0 2.7 1.8 4.0 3.5 3.7
745.2 Tetralogy of Fallot 127 4.9 5.3 4.5 1.2 4.5 5.4 6.3
745.3 Common ventricle 20 0.8 0.8 0.8 0.9 0.8 0.6 1.6
745.4 Ventricular septal defect 935 36.3 34.2 38.5 0.9 38.7 31.8 25.6
745.5 Ostium secundum type atrial septal def. 1,340 52.0 51.1 52.9 1.0 48.0 70.4 36.6
745.6 Endocardial cushion defects 75 2.9 2.6 3.2 0.8 3.3 2.4 1.0
746.0 Atresia/stenosis of pulmonary valve 244 9.5 9.8 9.2 1.1 8.5 13.7 5.8
746.1 Tricuspid atresia/stenosis/hypoplasia 24 0.9 1.1 0.8 1.3 0.8 1.3 1.0
746.2 Ebstein's anomaly 17 0.7 1.0 0.3 3.1 0.8 0.2 0.5
746.3 Congenital stenosis of aortic valve 31 1.2 2.0 0.4 4.9 1.4 0.9 0.5
746.7 Hypoplastic left heart syndrome 42 1.6 1.7 1.6 1.0 1.8 0.9 1.6
746.85 Anomalies of coronary artery 15 0.6 0.8 0.3 2.6 0.5 0.9 0.5
747.0 Patent ductus arteriosis 207 8.0 8.2 7.8 1.1 6.6 12.9 6.8
747.10 Coartation of aorta 92 3.6 4.3 2.8 1.5 3.9 2.6 3.1
747.41 Total anomalous pulmonary venus connect. 25 1.0 1.4 0.5 3.0 1.1 0.6 1.0
748.0 Choanal atresia 51 2.0 1.9 2.1 0.9 2.4 0.6 1.6
748.5 Agenesis/hypoplasia of lung 94 3.6 3.9 3.3 1.2 3.7 3.7 2.6
749.0 Cleft palate 144 5.6 4.6 6.6 0.7 6.4 3.7 2.6
749.1 Cleft lip 83 3.2 3.6 2.9 1.2 3.7 1.5 2.6
749.2 Cleft palate & lip 111 4.3 4.5 4.1 1.1 4.6 2.8 5.8
750.3 Tracheoesophageal fistula etc. 71 2.8 2.9 2.6 1.2 3.5 1.1 0.0
750.5 Congenital hypertrophic pyloric stenosis 518 20.1 31.8 7.7 4.1 24.3 10.5 6.3
751.1 Atresia and stenosis of small intestine 98 3.8 3.2 4.5 0.7 3.9 3.7 2.6
751.2 Atresia and stenosis of rectum or anus 109 4.2 4.8 3.6 1.3 4.4 4.3 2.1
751.3 Hirschsprungs disease 57 2.2 2.6 1.8 1.5 2.3 1.3 3.7
751.4 Anomalies of intestinal fixation 47 1.8 2.2 1.4 1.5 1.6 3.1 0.0
751.61 Biliary atresia 31 1.2 0.8 1.6 0.5 0.8 2.2 2.1
752.6 Epispadias 17 0.7 1.3 0.0   0.7 0.9 0.0
752.6 Hypospadias 894 34.7 67.3 0.3 211.1 38.3 26.8 20.9
753.0 Renal agenesis and dysgenesis 83 3.2 3.6 2.9 1.2 3.0 4.1 2.6
753.1 Cystic kidney disease 163 6.3 7.7 4.9 1.6 5.7 7.8 7.8
753.2 Obstructive defect renal pelvis & ureter 621 24.1 32.9 14.8 2.2 25.7 18.5 23.5
753.5 Extrophy of urinary bladder 8 0.3 0.4 0.2 1.6 0.3 0.2 0.0
753.6 Atresia & stenosis of urethra & bladder 21 0.8 1.5 0.1 19.0 0.8 0.6 1.6
754.3 Congenital dislocation of hip 332 12.9 5.2 21.0 0.2 15.0 5.5 13.6
754.51 Talipes equinovarus 257 10.0 12.5 7.3 1.7 10.7 9.4 3.1
755.2 Reduction deformities of upper limb 57 2.2 1.7 2.7 0.6 2.5 1.7 0.5
755.3 Reduction deformities of lower limb 42 1.6 1.4 1.8 0.8 1.5 1.7 2.1
755.8 Arthrogryposis multiplex congenita 26 1.0 1.0 1.0 0.9 1.0 1.5 0.0
756.0 Craniosynostosis 90 3.5 4.8 2.2 2.2 4.1 2.2 1.0
756.0 Goldenhar syndrome 16 0.6 0.8 0.5 1.6 0.6 0.7 0.5
756.4 Chonodrodystrophy 21 0.8 1.1 0.5 2.4 0.7 1.5 0.0
756.51 Osteogenesis imperfecta 13 0.5 0.4 0.6 0.6 0.5 0.6 0.0
756.6 Diaphragmatic hernia 53 2.1 2.6 1.5 1.7 2.2 1.8 1.6
756.7 Gastroschisis 18 0.7 0.9 0.5 1.9 0.7 0.9 0.0
756.7 Omphalocele 25 1.0 0.9 1.0 0.9 1.1 0.4 1.0
756.7 Prune belly 5 0.2 0.4 0.0   0.2 0.4 0.0
758.0 Down syndrome 282 10.9 11.6 10.2 1.1 12.0 7.4 10.5
758.1 Patau syndrome 24 0.9 0.8 1.1 0.7 0.9 0.9 1.0
758.2 Edwards syndrome 24 0.9 0.8 1.1 0.7 0.6 1.8 1.6
758.6 Gonadal dysgenesis 7 0.3 0.1 0.5 0.2 0.4 0.0 0.0
758.7 Klinefelter syndrome 13 0.5 0.9 0.1 11.4 0.7 0.0 0.5
759.3 Situs inversus 21 0.8 0.9 0.7 1.3 0.7 0.9 1.6
760.71 Fetal alcohol syndrome 45 1.7 1.7 1.8 0.9 0.7 6.1 0.0
771.0 Congenital rubella 2 0.1 0.2 0.0   0.1 0.2 0.0
771.1 Congenital cytomegalovirus infection 25 1.0 1.0 1.0 1.0 0.5 2.4 1.0
771.2 Other congenital infections 35 1.4 1.5 1.2 1.3 1.2 2.0 0.5
Section III
Children With Selected Malformations
Prevalences per 10,000 Live Births by Sex & Race
1999 Births– New York State Residents
ICD-9
Code
Malformation Total
Number
Total
Prevalence
Male Female Ratio
(M/F)
White Black Other
243 Congenital hypothyroidism 38 1.5 1.9 1.0 1.8 1.3 2.1 1.5
270.1 Phenylketonuria 3 0.1 0.1 0.2 0.5 0.1 0.2 0.0
277.0 Cystic fibrosis 19 0.7 0.8 0.6 1.3 0.7 0.9 0.0
282.6 Sickle-cell anemia 103 4.0 4.7 3.4 1.4 0.3 18.1 0.0
740.0 Anencephalus 11 0.4 0.4 0.5 0.8 0.4 0.4 0.0
741.0 Spina bifida with hydrocephalus 19 0.7 0.5 1.0 0.4 0.7 0.8 1.0
741.9 Spina bifida without hydrocephalus 26 1.0 1.1 1.0 1.1 1.1 0.8 1.0
742.0 Encephalocele 15 0.6 0.6 0.6 1.1 0.6 0.6 0.5
742.1 Microcephalus 127 5.0 4.1 5.9 0.7 4.3 7.9 3.6
742.2 Agyria & lissencephaly 4 0.2 0.2 0.2 1.0 0.2 0.0 0.0
742.2 Anomalies of corpus callosum 45 1.8 1.8 1.7 1.1 1.9 1.9 0.5
742.2 Holoprosencephaly 10 0.4 0.5 0.2 2.2 0.4 0.6 0.0
742.3 Congenital hydrocephalus 209 8.2 9.6 6.8 1.4 6.9 13.6 5.6
742.4 Porencephaly 5 0.2 0.2 0.2 1.4 0.2 0.0 0.5
742.5 Congenital tethered cord 22 0.9 0.9 0.8 1.1 1.2 0.2 0.0
743.1 Microphthalmos 22 0.9 0.8 1.0 0.8 0.9 0.9 0.5
743.2 Glaucoma 15 0.6 0.8 0.4 1.9 0.5 0.8 0.5
743.3 Absence of lens 2 0.1 0.2 0.0   0.1 0.0 0.0
743.3 Congenital cataract 24 0.9 1.1 0.7 1.6 1.0 0.9 0.5
743.45 Aniridia 1 0.0 0.1 0.0   0.0 0.0 0.5
743.46 Coloboma of iris 2 0.1 0.1 0.1 1.0 0.1 0.0 0.0
744.0 Anotia/microtia 20 0.8 0.8 0.7 1.2 0.9 0.4 0.5
745.0 Common truncus 19 0.7 0.8 0.7 1.1 0.8 0.9 0.0
745.1 Transposition of great vessels 103 4.0 5.0 3.0 1.7 4.3 2.8 4.6
745.2 Tetralogy of Fallot 106 4.2 4.6 3.7 1.2 3.9 5.5 3.1
745.3 Common ventricle 19 0.7 0.7 0.8 0.9 0.9 0.4 0.5
745.4 Ventricular septal defect 870 34.1 31.7 36.6 0.9 34.9 30.9 34.1
745.5 Ostium secundum type atrial septal def. 1,308 51.3 51.9 50.6 1.0 45.1 78.4 32.0
745.6 Endocardial cushion defects 67 2.6 2.2 3.1 0.7 2.6 3.0 1.5
746.0 Atresia/stenosis of pulmonary valve 198 7.8 7.6 7.9 1.0 6.4 14.3 3.1
746.1 Tricuspid atresia/stenosis/hypoplasia 23 0.9 0.7 1.1 0.6 0.9 0.9 1.0
746.2 Ebstein's anomaly 8 0.3 0.3 0.3 1.0 0.4 0.0 0.5
746.3 Congenital stenosis of aortic valve 17 0.7 1.0 0.3 3.1 0.8 0.0 1.0
746.7 Hypoplastic left heart syndrome 42 1.6 2.1 1.2 1.7 1.8 1.9 0.0
746.85 Anomalies of coronary artery 8 0.3 0.5 0.2 2.9 0.1 1.1 0.0
747.0 Patent ductus arteriosis 270 10.6 9.2 12.1 0.8 9.8 14.5 7.1
747.10 Coartation of aorta 119 4.7 5.0 4.3 1.2 4.4 4.9 5.6
747.41 Total anomalous pulmonary venus connect. 22 0.9 1.1 0.6 1.7 1.0 0.4 0.0
748.0 Choanal atresia 30 1.2 1.3 1.0 1.2 1.3 0.9 1.0
748.5 Agenesis/hypoplasia of lung 80 3.1 2.9 3.4 0.9 2.6 4.9 2.0
749.0 Cleft palate 135 5.3 5.4 5.2 1.0 5.3 4.3 7.1
749.1 Cleft lip 56 2.2 3.0 1.4 2.2 2.4 1.1 3.1
749.2 Cleft palate & lip 120 4.7 6.0 3.3 1.8 5.1 3.4 4.6
750.3 Tracheoesophageal fistula etc. 51 2.0 2.1 1.9 1.1 2.3 1.3 1.0
750.5 Congenital hypertrophic pyloric stenosis 478 18.7 29.4 7.5 3.9 22.4 10.9 6.1
751.1 Atresia and stenosis of small intestine 78 3.1 3.2 2.9 1.1 2.6 4.1 4.1
751.2 Atresia and stenosis of rectum or anus 104 4.1 4.7 3.5 1.3 4.3 2.8 5.1
751.3 Hirschsprungs disease 59 2.3 3.2 1.4 2.4 1.9 3.2 3.6
751.4 Anomalies of intestinal fixation 54 2.1 2.6 1.6 1.6 2.1 2.6 1.0
751.61 Biliary atresia 23 0.9 1.3 0.5 2.7 0.7 1.5 1.5
752.6 Epispadias 8 0.3 0.5 0.1 6.7 0.3 0.4 0.0
752.6 Hypospadias 822 32.2 62.5 0.4 155.4 34.5 27.1 22.4
753.0 Renal agenesis and dysgenesis 76 3.0 3.7 2.2 1.7 2.7 3.4 3.1
753.1 Cystic kidney disease 118 4.6 5.4 3.9 1.4 4.2 6.8 2.0
753.2 Obstructive defect renal pelvis & ureter 654 25.6 34.7 16.1 2.2 27.1 20.7 23.4
753.5 Extrophy of urinary bladder 6 0.2 0.2 0.3 0.5 0.3 0.0 0.0
753.6 Atresia & stenosis of urethra & bladder 19 0.7 1.4 0.1 17.1 0.5 1.3 0.5
754.3 Congenital dislocation of hip 286 11.2 7.1 15.5 0.5 12.2 5.7 16.8
754.51 Talipes equinovarus 269 10.5 12.8 8.1 1.6 11.3 9.8 5.1
755.2 Reduction deformities of upper limb 48 1.9 2.3 1.4 1.6 2.2 1.1 1.0
755.3 Reduction deformities of lower limb 32 1.3 1.1 1.4 0.7 1.3 1.5 0.0
755.8 Arthrogryposis multiplex congenita 10 0.4 0.5 0.2 2.2 0.5 0.2 0.0
756.0 Craniosynostosis 96 3.8 4.8 2.7 1.8 4.2 3.0 2.0
756.0 Goldenhar syndrome 12 0.5 0.5 0.5 1.0 0.4 0.6 0.5
756.4 Chonodrodystrophy 30 1.2 0.8 1.6 0.5 1.1 1.9 0.0
756.51 Osteogenesis imperfecta 16 0.6 0.5 0.7 0.7 0.8 0.4 0.0
756.6 Diaphragmatic hernia 52 2.0 2.3 1.8 1.3 2.0 2.3 1.5
756.7 Gastroschisis 43 1.7 1.1 2.3 0.5 1.7 2.3 0.0
756.7 Omphalocele 19 0.7 0.3 1.2 0.3 0.8 0.9 0.0
756.7 Prune belly 5 0.2 0.2 0.2 1.4 0.2 0.2 0.0
758.0 Down syndrome 291 11.4 11.3 11.5 1.0 12.6 10.0 4.6
758.1 Patau syndrome 14 0.5 0.7 0.4 1.7 0.5 0.8 0.0
758.2 Edwards syndrome 30 1.2 0.8 1.5 0.6 1.0 1.7 1.0
758.6 Gonadal dysgenesis 12 0.5 0.1 0.9 0.1 0.4 0.8 0.0
758.7 Klinefelter syndrome 17 0.7 1.3 0.0   0.7 0.8 0.5
759.3 Situs inversus 18 0.7 0.9 0.5 1.9 0.7 0.4 2.0
760.71 Fetal alcohol syndrome 25 1.0 1.4 0.6 2.4 0.4 2.8 0.5
771.0 Congenital rubella 3 0.1 0.1 0.2 0.5 0.1 0.4 0.0
771.1 Congenital cytomegalovirus infection 15 0.6 0.7 0.5 1.4 0.5 1.1 0.0
771.2 Other congenital infections 39 1.5 1.7 1.4 1.2 1.4 2.3 0.5
Section III
Children With Selected Malformations
Prevalences per 10,000 Live Births by Sex & Race
2000 Births– New York State Residents
ICD-9
Code
Malformation Total
Number
Total
Prevalence
Male Female Ratio
(M/F)
White Black Other
243 Congenital hypothyroidism 52 2.0 2.4 1.6 1.5 1.5 3.3 2.8
270.1 Phenylketonuria 1 0.0 0.0 0.1 0.0 0.1 0.0 0.0
277.0 Cystic fibrosis 20 0.8 0.7 0.9 0.8 1.0 0.4 0.0
282.6 Sickle-cell anemia 82 3.2 3.2 3.1 1.0 0.4 13.6 0.0
740.0 Anencephalus 15 0.6 0.8 0.4 1.9 0.7 0.2 0.9
741.0 Spina bifida with hydrocephalus 20 0.8 0.8 0.8 0.9 0.7 1.1 0.0
741.9 Spina bifida without hydrocephalus 23 0.9 1.0 0.8 1.2 0.8 1.3 0.9
742.0 Encephalocele 25 1.0 0.9 1.0 0.9 0.8 1.7 0.9
742.1 Microcephalus 118 4.6 4.1 5.0 0.8 3.3 7.7 6.9
742.2 Agyria & lissencephaly 2 0.1 0.2 0.0   0.1 0.2 0.0
742.2 Anomalies of corpus callosum 29 1.1 1.3 1.0 1.3 1.3 1.1 0.0
742.2 Holoprosencephaly 16 0.6 0.3 1.0 0.3 0.7 0.7 0.0
742.3 Congenital hydrocephalus 191 7.4 8.1 6.6 1.2 6.3 11.7 6.0
742.4 Porencephaly 10 0.4 0.5 0.2 2.2 0.5 0.2 0.0
742.5 Congenital tethered cord 28 1.1 1.2 1.0 1.3 1.3 0.6 0.5
743.1 Microphthalmos 15 0.6 0.7 0.5 1.4 0.6 0.6 0.5
743.2 Glaucoma 6 0.2 0.2 0.3 0.5 0.2 0.4 0.0
743.3 Absence of lens 1 0.0 0.0 0.1 0.0 0.1 0.0 0.0
743.3 Congenital cataract 29 1.1 0.8 1.4 0.6 1.1 1.3 0.9
743.46 Coloboma of iris 4 0.2 0.1 0.2 0.3 0.1 0.4 0.0
744.0 Anotia/microtia 13 0.5 0.7 0.3 2.1 0.5 0.2 0.9
745.0 Common truncus 13 0.5 0.3 0.7 0.4 0.5 0.4 0.5
745.1 Transposition of great vessels 82 3.2 3.6 2.7 1.3 3.2 2.6 4.6
745.2 Tetralogy of Fallot 89 3.4 4.4 2.4 1.9 3.2 3.1 6.5
745.3 Common ventricle 7 0.3 0.5 0.1 5.7 0.2 0.6 0.0
745.4 Ventricular septal defect 894 34.6 31.3 38.0 0.8 35.4 31.9 32.3
745.5 Ostium secundum type atrial septal def. 1,366 52.8 54.8 50.7 1.1 48.5 71.9 39.2
745.6 Endocardial cushion defects 52 2.0 2.2 1.8 1.2 1.9 2.8 1.4
746.0 Atresia/stenosis of pulmonary valve 206 8.0 7.2 8.8 0.8 7.5 10.3 6.0
746.1 Tricuspid atresia/stenosis/hypoplasia 17 0.7 0.8 0.5 1.7 0.4 1.3 0.9
746.2 Ebstein's anomaly 16 0.6 0.7 0.6 1.2 0.7 0.4 0.9
746.3 Congenital stenosis of aortic valve 36 1.4 1.7 1.1 1.5 1.9 0.2 0.5
746.7 Hypoplastic left heart syndrome 55 2.1 2.5 1.7 1.4 2.3 1.8 0.9
746.85 Anomalies of coronary artery 6 0.2 0.3 0.2 1.9 0.3 0.2 0.0
747.0 Patent ductus arteriosis 318 12.3 12.1 12.5 1.0 11.1 17.1 10.6
747.10 Coartation of aorta 110 4.3 4.8 3.7 1.3 4.6 2.9 5.1
747.41 Total anomalous pulmonary venus connect. 10 0.4 0.3 0.5 0.6 0.4 0.4 0.5
748.0 Choanal atresia 34 1.3 1.4 1.3 1.1 1.4 1.1 0.5
748.5 Agenesis/hypoplasia of lung 72 2.8 3.2 2.4 1.3 2.4 4.2 2.3
749.0 Cleft palate 145 5.6 5.2 6.0 0.9 6.5 3.1 4.2
749.1 Cleft lip 68 2.6 3.6 1.6 2.3 2.6 2.6 2.8
749.2 Cleft palate & lip 117 4.5 5.6 3.4 1.6 5.3 1.7 5.5
750.3 Tracheoesophageal fistula etc. 57 2.2 2.5 1.9 1.3 2.8 1.1 0.0
750.5 Congenital hypertrophic pyloric stenosis 394 15.2 24.3 5.7 4.2 18.0 9.7 6.0
751.1 Atresia and stenosis of small intestine 73 2.8 2.3 3.4 0.7 2.7 2.9 2.8
751.2 Atresia and stenosis of rectum or anus 84 3.2 3.7 2.8 1.3 3.3 2.9 3.2
751.3 Hirschsprungs disease 44 1.7 2.0 1.4 1.4 1.5 2.8 0.0
751.4 Anomalies of intestinal fixation 33 1.3 2.0 0.6 3.5 1.3 1.5 0.9
751.61 Biliary atresia 24 0.9 1.1 0.8 1.3 0.7 1.5 1.8
752.6 Epispadias 9 0.3 0.7 0.0   0.4 0.2 0.0
752.6 Hypospadias 893 34.5 66.9 0.4 168.6 35.6 34.3 24.9
753.0 Renal agenesis and dysgenesis 75 2.9 4.2 1.5 2.8 3.3 2.2 0.9
753.1 Cystic kidney disease 122 4.7 4.8 4.6 1.0 4.7 5.0 4.2
753.2 Obstructive defect renal pelvis & ureter 683 26.4 36.4 15.9 2.3 29.1 16.5 28.1
753.5 Extrophy of urinary bladder 6 0.2 0.2 0.2 0.9 0.3 0.0 0.0
753.6 Atresia & stenosis of urethra & bladder 14 0.5 1.1 0.0   0.5 0.6 0.5
754.3 Congenital dislocation of hip 290 11.2 5.7 17.0 0.3 12.7 5.7 12.5
754.51 Talipes equinovarus 271 10.5 11.1 9.8 1.1 11.1 9.9 6.5
755.2 Reduction deformities of upper limb 42 1.6 2.0 1.2 1.7 1.8 1.3 1.4
755.3 Reduction deformities of lower limb 30 1.2 1.5 0.8 1.9 1.0 2.2 0.0
755.8 Arthrogryposis multiplex congenita 23 0.9 0.8 1.0 0.7 0.9 1.1 0.0
756.0 Craniosynostosis 96 3.7 5.1 2.3 2.2 3.8 3.9 2.8
756.0 Goldenhar syndrome 4 0.2 0.1 0.2 0.3 0.2 0.0 0.0
756.4 Chonodrodystrophy 38 1.5 1.2 1.7 0.7 1.2 2.2 1.8
756.51 Osteogenesis imperfecta 7 0.3 0.4 0.2 2.4 0.3 0.4 0.0
756.6 Diaphragmatic hernia 44 1.7 2.0 1.4 1.5 1.9 0.9 1.8
756.7 Gastroschisis 22 0.9 0.8 1.0 0.8 0.8 1.3 0.0
756.7 Omphalocele 28 1.1 1.2 1.0 1.3 0.9 2.2 0.0
756.7 Prune belly 4 0.2 0.3 0.0   0.1 0.6 0.0
758.0 Down syndrome 269 10.4 9.7 11.1 0.9 10.4 10.5 8.8
758.1 Patau syndrome 17 0.7 0.4 1.0 0.4 0.7 0.7 0.5
758.2 Edwards syndrome 23 0.9 0.5 1.3 0.4 0.8 1.3 0.5
758.6 Gonadal dysgenesis 16 0.6 0.1 1.2 0.1 0.8 0.2 0.5
758.7 Klinefelter syndrome 17 0.7 1.3 0.0   0.7 0.7 0.0
759.3 Situs inversus 9 0.3 0.2 0.6 0.3 0.4 0.2 0.5
760.71 Fetal alcohol syndrome 22 0.9 0.9 0.8 1.1 0.5 2.4 0.0
771.1 Congenital cytomegalovirus infection 11 0.4 0.4 0.5 0.8 0.4 0.7 0.0
771.2 Other congenital infections 24 0.9 0.8 1.0 0.8 0.7 1.5 1.8
Section III
Children With Selected Malformations
Prevalences per 10,000 Live Births by Sex & Race
2001 Births– New York State Residents
ICD-9
Code
Malformation Total
Number
Total
Prevalence
Male Female Ratio
(M/F)
White Black Other
243 Congenital hypothyroidism 59 2.3 2.9 1.8 1.6 1.8 4.6 0.5
270.1 Phenylketonuria 2 0.1 0.2 0.0   0.1 0.0 0.0
277.0 Cystic fibrosis 20 0.8 0.6 1.0 0.6 0.9 0.4 0.5
282.6 Sickle-cell anemia 76 3.0 2.9 3.2 0.9 0.3 13.5 0.0
740.0 Anencephalus 11 0.4 0.5 0.4 1.1 0.6 0.2 0.0
741.0 Spina bifida with hydrocephalus 24 0.9 1.2 0.7 1.6 0.9 1.4 0.0
741.9 Spina bifida without hydrocephalus 31 1.2 1.0 1.5 0.7 1.2 1.4 1.0
742.0 Encephalocele 16 0.6 0.6 0.6 1.0 0.6 0.6 1.0
742.1 Microcephalus 90 3.6 3.3 3.8 0.9 3.2 5.0 3.3
742.2 Agyria & lissencephaly 6 0.2 0.2 0.2 1.0 0.3 0.0 0.0
742.2 Anomalies of corpus callosum 25 1.0 1.2 0.8 1.4 1.0 0.6 1.9
742.2 Holoprosencephaly 5 0.2 0.2 0.2 0.6 0.2 0.0 0.0
742.3 Congenital hydrocephalus 159 6.3 7.2 5.3 1.4 6.3 7.5 2.4
742.4 Porencephaly 13 0.5 0.6 0.4 1.5 0.6 0.4 0.0
742.5 Congenital tethered cord 22 0.9 0.8 0.9 1.0 0.8 0.6 2.4
743.0 Anophthalmos 4 0.2 0.1 0.2 0.3 0.2 0.0 0.5
743.1 Microphthalmos 10 0.4 0.5 0.3 1.4 0.3 0.8 0.0
743.2 Glaucoma 14 0.6 0.7 0.4 1.7 0.6 0.6 0.0
743.3 Absence of lens 7 0.3 0.2 0.3 0.7 0.3 0.2 0.5
743.3 Congenital cataract 23 0.9 0.8 1.0 0.9 0.9 1.0 0.5
743.45 Aniridia 2 0.1 0.2 0.0   0.1 0.0 0.0
743.46 Coloboma of iris 3 0.1 0.1 0.2 0.5 0.2 0.0 0.0
744.0 Anotia/microtia 6 0.2 0.2 0.2 1.0 0.3 0.0 0.5
745.0 Common truncus 11 0.4 0.4 0.5 0.8 0.4 0.4 0.5
745.1 Transposition of great vessels 91 3.6 4.4 2.7 1.6 3.5 3.1 5.7
745.2 Tetralogy of Fallot 112 4.4 4.9 4.0 1.2 4.2 4.1 7.1
745.3 Common ventricle 12 0.5 0.4 0.6 0.7 0.5 0.6 0.0
745.4 Ventricular septal defect 839 33.1 30.6 35.7 0.9 34.2 29.0 33.3
745.5 Ostium secundum type atrial septal def. 1,126 44.4 47.8 40.9 1.2 39.9 62.9 36.6
745.6 Endocardial cushion defects 42 1.7 1.2 2.1 0.6 1.6 2.5 0.5
746.0 Atresia/stenosis of pulmonary valve 211 8.3 7.7 9.0 0.9 8.0 10.2 5.7
746.1 Tricuspid atresia/stenosis/hypoplasia 10 0.4 0.4 0.4 1.0 0.4 0.6 0.0
746.2 Ebstein's anomaly 14 0.6 0.5 0.6 0.7 0.6 0.6 0.5
746.3 Congenital stenosis of aortic valve 28 1.1 1.7 0.5 3.5 1.4 0.4 0.5
746.7 Hypoplastic left heart syndrome 47 1.9 2.2 1.5 1.5 2.0 1.9 0.5
746.85 Anomalies of coronary artery 7 0.3 0.5 0.0   0.2 0.6 0.0
747.0 Patent ductus arteriosis 355 14.0 15.0 13.0 1.1 12.9 20.7 7.1
747.10 Coartation of aorta 89 3.5 4.0 3.0 1.3 3.4 3.1 5.7
747.41 Total anomalous pulmonary venus connect. 11 0.4 0.5 0.3 1.7 0.4 0.6 0.5
748.0 Choanal atresia 27 1.1 1.2 0.9 1.4 1.5 0.0 0.0
748.5 Agenesis/hypoplasia of lung 56 2.2 2.8 1.6 1.7 2.3 1.9 1.4
749.0 Cleft palate 169 6.7 6.6 6.8 1.0 8.0 3.7 2.9
749.1 Cleft lip 54 2.1 2.5 1.8 1.4 2.4 1.0 2.4
749.2 Cleft palate & lip 111 4.4 5.6 3.2 1.8 4.7 3.5 3.3
750.3 Tracheoesophageal fistula etc. 53 2.1 2.4 1.8 1.3 2.5 1.2 1.0
750.5 Congenital hypertrophic pyloric stenosis 386 15.2 24.9 5.1 4.9 17.4 8.9 11.4
751.1 Atresia and stenosis of small intestine 84 3.3 3.3 3.3 1.0 3.2 4.1 2.9
751.2 Atresia and stenosis of rectum or anus 94 3.7 4.2 3.2 1.3 3.8 2.7 5.2
751.3 Hirschsprungs disease 51 2.0 2.9 1.1 2.8 2.0 2.1 1.9
751.4 Anomalies of intestinal fixation 44 1.7 1.9 1.6 1.1 2.0 0.8 1.9
751.61 Biliary atresia 20 0.8 0.5 1.1 0.5 0.7 1.0 1.0
752.6 Epispadias 7 0.3 0.5 0.0   0.3 0.0 0.5
752.6 Hypospadias 886 35.0 67.9 0.4 168.0 37.0 31.8 23.3
753.0 Renal agenesis and dysgenesis 66 2.6 3.1 2.1 1.5 2.7 2.7 1.4
753.1 Cystic kidney disease 116 4.6 5.2 4.0 1.3 4.4 6.2 1.9
753.2 Obstructive defect renal pelvis & ureter 698 27.5 39.0 15.5 2.5 29.5 21.0 25.2
753.5 Extrophy of urinary bladder 4 0.2 0.2 0.1 2.9 0.2 0.0 0.0
753.6 Atresia & stenosis of urethra & bladder 13 0.5 0.8 0.2 5.2 0.4 1.0 0.0
754.3 Congenital dislocation of hip 219 8.6 3.3 14.2 0.2 10.1 4.4 6.2
754.51 Talipes equinovarus 272 10.7 12.6 8.8 1.4 11.0 9.8 10.0
755.2 Reduction deformities of upper limb 20 0.8 0.7 0.9 0.8 0.8 0.8 1.0
755.3 Reduction deformities of lower limb 33 1.3 1.5 1.1 1.5 1.3 1.0 1.9
755.8 Arthrogryposis multiplex congenita 10 0.4 0.4 0.4 1.0 0.4 0.4 0.5
756.0 Craniosynostosis 94 3.7 4.2 3.2 1.3 4.2 2.9 1.4
756.0 Goldenhar syndrome 5 0.2 0.1 0.3 0.2 0.3 0.0 0.0
756.4 Chonodrodystrophy 35 1.4 1.6 1.1 1.4 1.2 2.1 1.0
756.51 Osteogenesis imperfecta 8 0.3 0.2 0.5 0.3 0.3 0.2 0.5
756.6 Diaphragmatic hernia 28 1.1 1.5 0.7 2.0 1.1 1.4 0.5
756.7 Gastroschisis 39 1.5 1.6 1.5 1.1 1.8 1.4 0.0
756.7 Omphalocele 31 1.2 1.4 1.1 1.3 1.2 1.4 1.0
756.7 Prune belly 5 0.2 0.4 0.0   0.2 0.2 0.0
758.0 Down syndrome 285 11.2 11.3 11.2 1.0 11.9 8.3 11.9
758.1 Patau syndrome 14 0.6 0.6 0.5 1.3 0.5 0.8 0.5
758.2 Edwards syndrome 23 0.9 0.5 1.4 0.3 0.6 1.9 1.0
758.6 Gonadal dysgenesis 13 0.5 0.2 0.9 0.2 0.6 0.2 0.5
758.7 Klinefelter syndrome 14 0.6 1.1 0.0   0.6 0.4 0.5
759.3 Situs inversus 11 0.4 0.5 0.3 1.7 0.4 0.4 0.5
760.71 Fetal alcohol syndrome 15 0.6 0.8 0.3 2.6 0.2 1.9 0.0
771.0 Congenital rubella 1 0.0 0.1 0.0   0.1 0.0 0.0
771.1 Congenital cytomegalovirus infection 19 0.7 0.6 0.9 0.7 0.6 1.7 0.0
771.2 Other congenital infections 21 0.8 0.8 0.8 1.0 0.6 1.5 1.0