Summative Diagnosis:
Cardiovascular phenotype: Heterotaxy with complex congenital heart disease such as persistent truncus arterosus (PTA) with dextroversion, double outlet right ventricle (DORV) with hypoplastic pulmonary artery (TOF type DORV), atrioventricular canal defect (AVSD), right aortic arch (RAA), and vascular ring
Noncardiovascular phenotype: Central polydactyly with syndactyly and preaxial digit duplication, cleft lip, micrognathia, diaphragmatic hernia, hypoplastic spleen, kidneys are cystic and hypoplastic

Fyler Codes
The Fyler code developed by The Boston Children's Heart Foundation in Boston Children's Hospital provides a hierarchical clinical diagnosis of congenital cardiovascular defects and other disorders. These codes are used to delineate pathology in the mutant mouse models that parallel human disease and can be cross referenced to the International Pediatric and Congenital Cardiac Code (IPCCC) (http://www.ipccc.net/).

Fyler Code ID Code Description
0190 Heterotaxy syndrome
0500 Truncus arteriosus
0600 Double outlet right ventricle
0606 DORV + AVSD (AV canal)
1100 Atrioventricular canal (endocardial cushion defect)
2700 Abnormal aortic arch
2720 Right aortic arch
2760 Vascular ring
2966 Hypoplastic main pulmonary artery
3608 Left ventricular hypertrophy
3609 Right ventricular hypertrophy
4103 Polydactyly
4163 Micrognathia
4170 Hand and/or foot anomaly
4201 Diaphragmatic hernia
4875 Cleft lip
4906 Non-cardiac abnormality
4907 Non-cardiac thoracic abnormality