Birth Defects and Syndromes for Which Reporting is Mandatory.
Achondroplasia | Microphthalmia and Anophthalmia |
Ambiguous Genitalia | Microtia/Anotia |
Amniotic Bands | Multicystic or Dysplastic Kidney |
Anencephaly | Noonan Syndrome |
Angelman Syndrome | Obstructive Urinary Tract Defect [not posterior valves; not urethral stenosis/atresia] |
Arthrogryposis Multiplex Congenita | Oculoauriculovertebral Association (including Goldenhar Association and Hemifacial Microsomia) |
Atrial Septal Defect | Omphalocele |
AV Canal/Endocardial Cushion Defect | Osteogenesis Imperfecta |
Beckwith-Wiedemann Syndrome | Other Chromosomal Anomaly (not +13, +18, +21, XXY, Turner S., 22q-) |
Biliary Atresia | Polycystic Kidney Disease, Autosomal Dominant Form |
Bone Dysplasia/Dwarfism, Other (not Achondroplasia) | Polycystic Kidney Disease, Autosomal Recessive Form |
Cardiac Arrhythmia (Congenital) | Polycystic Kidney Disease, Uncertain Form |
Cataract (Congenital or Early) | Porencephaly |
CHARGE Association | Posterior Urethral Valves |
Choanal Atresia | Prader-Willi Syndrome |
Cleft Lip with or without Cleft Palate | Pyloric Stenosis |
Cleft Palate | Rectal/Colonic Atresia/Stenosis |
Clubfoot (Congenital) | Reduction Deformity, Arm or Hand |
Coarctation of the Aorta | Reduction Deformity, Leg or Foot |
Coloboma | Renal Agenesis/Hypoplasia |
Craniosynostosis | Robin Malformation Sequence (Pierre Robin Sequence) |
Cystic Fibrosis | Scoliosis or Kyphosis/Hemivertebra (Infantile) |
De Lange Syndrome (Cornelia De Lange Syndrome) | Small Bowel Atresia/Stenosis |
Diaphragmatic Hernia | Smith-Lemli-Opitz Syndrome |
Down Syndrome | Sotos Syndrome |
Encephalocele | Spina Bifida |
Epispadias | Spinal Muscular Atrophy (Infantile) |
Exstrophy of the Bladder/Cloaca | Stickler Syndrome |
Gastroschisis | Tetralogy of Fallot |
Glaucoma (Congenital) | Total Anomalous Pulmonary Venous Return |
Hemivertebra | Tracheo-Esophageal Fistula/Esophageal Atresia |
Hemophilia | Transposition of the Great Vessels |
Hereditary Spherocytosis | Trisomy 13 |
Hip Dislocation (Congenital)/Developmental Dysplasia of Hip (Congenital) | Trisomy 18 |
Hirschsprung Disease | Trisomy 21 |
Holoprosencephaly | Truncus Arteriosus |
Hydranencephaly | Turner Syndrome |
Hydrocephalus (Congenital or Early) | Urethral Stenosis/Atresia |
Hypoplastic Left Heart | Valvular Heart Disease (Congenital) |
Hypospadias | VATER Association |
Hypothyroidism (Congenital) | Velocardiofacial Syndrome (22q Deletion Syndrome) |
Klinefelter Syndrome | Ventricular Septal Defect |
Marfan Syndrome | Von Willebrand Disease |
Microcephaly (Congenital or Early) | Williams Syndrome |
Wis. Admin. Code Department of Health Services, DHS 110-199, ch. DHS 116, app A
Definitions can be found in the Birth Defects Encyclopedia: The Comprehensive, Systematic, Illustrated Reference Source for the Diagnosis, Delineation, Etiology, Biodynamics, Occurrence, Prevention, and Treatment of Human Anomalies of Clinical Relevance, Volumes I and II, Centers for Birth Defects Information Services, Inc. 1990.