Investigation of the Multiple Malformation Syndrome in Llamas and Alpacas Associated with Choanal Atresia

This study is administered through MAF and completely funded by ARF

Investigation of the Multiple Malformation Syndrome in Llamas and Alpacas Associated with Choanal Atresia

Principal investigators:

Anibal G. Armien, DVM, MSc
Kent M. Reed, PhD
University of Minnesota College of Veterinary Medicine

Choanal atresia (CA) is a common inherited congenital disease affecting alpacas and llamas. It is caused by abnormal development of the nasal passages, which prevents airflow from the nose to the larynx. The condition results in open-mouth breathing in newborns and predisposes them to fatal aspiration pneumonia. Recent scientific evidence indicates that CA is similar to CHARGE syndrome in humans, for which the genetic mutation (CDH7) has been identified. Humans affected with CHARGE syndrome are often born with life-threatening birth defects, including heart deformities and breathing problems. In this study, scientists from the University of Minnesota tried to determine whether CDH7 is associated with CA in alpacas and llamas but found that complete sequencing of the CHD7 gene will be needed to determine if other mutations in the gene are the cause of CA in llamas and alpacas. Preliminary data indicate that nine of 10 alpacas with CA have cranial and/or internal organ malformation. Researchers identified patterns of malformation that are associated with CA in these animals, and the findings will provide veterinarians with a better way to diagnose CA and differentiate it from other diseases.