Appendix 3.1 Birth Defects Descriptions for NBDPN Core, Recommended, and Extended Conditions Updated March 2017 Participating members of the Birth Defects Definitions Group: Lorenzo Botto (UT) John Carey (UT) Cynthia Cassell (CDC) Tiffany Colarusso (CDC) Janet Cragan (CDC) Marcia Feldkamp (UT) Jamie Frias (CDC) Angela Lin (MA) Cara Mai (CDC) Richard Olney (CDC) Carol Stanton (CO) Csaba Siffel (GA) Table of Contents LIST OF BIRTH DEFECTS ................................................................................................................................................. I DETAILED DESCRIPTIONS OF BIRTH DEFECTS ...................................................................................................... 1 FORMAT FOR BIRTH DEFECT DESCRIPTIONS ................................................................................................................................. 1 CENTRAL NERVOUS SYSTEM ....................................................................................................................................... 2 ANENCEPHALY ........................................................................................................................................................................ 2 ENCEPHALOCELE ..................................................................................................................................................................... 3 HOLOPROSENCEPHALY.............................................................................................................................................................. 4 SPINA BIFIDA WITHOUT ANENCEPHALY ....................................................................................................................................... 5 EYE ........................................................................................................................................................................................ 7 ANOPHTHALMIA/MICROPHTHALMIA ........................................................................................................................................... 7 CONGENITAL CATARACT ........................................................................................................................................................... 8 EAR ....................................................................................................................................................................................... 9 ANOTIA/MICROTIA ................................................................................................................................................................. 9 CARDIOVASCULAR ........................................................................................................................................................ 11 AORTIC VALVE STENOSIS ........................................................................................................................................................ 11 ATRIAL SEPTAL DEFECT (ASD)................................................................................................................................................. 12 ATRIOVENTRICULAR SEPTAL DEFECT.......................................................................................................................................... 13 (ATRIOVENTRICULAR CANAL DEFECT; ENDOCARDIAL CUSHION DEFECT) .......................................................................................... 13 COARCTATION OF THE AORTA.................................................................................................................................................. 15 COMMON TRUNCUS (TRUNCUS ARTERIOSUS OR TA) ................................................................................................................... 16 DOUBLE OUTLET RIGHT VENTRICLE (DORV) ............................................................................................................................. 17 EBSTEIN ANOMALY ............................................................................................................................................................... 18 HYPOPLASTIC LEFT HEART SYNDROME (HLHS) ........................................................................................................................... 19 INTERRUPTED AORTIC ARCH (IAA) ........................................................................................................................................... 20 PULMONARY VALVE ATRESIA AND STENOSIS............................................................................................................................... 21 SINGLE VENTRICLE ................................................................................................................................................................ 23 TETRALOGY OF FALLOT (TOF) ................................................................................................................................................. 24 TOTAL ANOMALOUS PULMONARY VENOUS CONNECTION (TAPVC) ................................................................................................ 26 TRANSPOSITION OF THE GREAT ARTERIES (TGA) ........................................................................................................................ 27 TRICUSPID VALVE ATRESIA AND STENOSIS ................................................................................................................................. 29 VENTRICULAR SEPTAL DEFECT (VSD) ........................................................................................................................................ 30 OROFACIAL ...................................................................................................................................................................... 31 CHOANAL ATRESIA................................................................................................................................................................ 31 CLEFT LIP ALONE (WITHOUT CLEFT PALATE)............................................................................................................................... 32 CLEFT LIP WITH CLEFT PALATE ................................................................................................................................................ 33 CLEFT PALATE ALONE (WITHOUT CLEFT LIP)............................................................................................................................... 34 GASTROINTESTINAL ..................................................................................................................................................... 34 BILIARY ATRESIA .................................................................................................................................................................. 35 ESOPHAGEAL ATRESIA/TRACHEOESOPHAGEAL FISTULA ................................................................................................................. 36 RECTAL AND LARGE INTESTINAL ATRESIA/STENOSIS ..................................................................................................................... 37 SMALL INTESTINAL ATRESIA/STENOSIS ...................................................................................................................................... 38 GENITOURINARY............................................................................................................................................................ 39 BLADDER EXSTROPHY ............................................................................................................................................................ 39 i Appendix 3.1 Case Definition CLOACAL EXSTROPHY ............................................................................................................................................................. 41 CONGENITAL POSTERIOR URETHRAL VALVES .............................................................................................................................. 42 HYPOSPADIAS ...................................................................................................................................................................... 43 RENAL AGENESIS/HYPOPLASIA ................................................................................................................................................ 45 MUSCULOSKELETAL ..................................................................................................................................................... 47 CLUBFOOT .......................................................................................................................................................................... 47 CRANIOSYNOSTOSIS .............................................................................................................................................................. 48 DIAPHRAGMATIC HERNIA ....................................................................................................................................................... 49 GASTROSCHISIS.................................................................................................................................................................... 50 LIMB DEFICIENCIES (REDUCTION DEFECTS)...............................................................................................................................