Cleft lip with or without cleft palate

Disease overview

Cleft lip with or without cleft palate is a disease that occurs during embryonic development as the two halves of the body fuse together. With this mutation, the mouth does not completely fuse at the midline, causing a gap in the roof of the mouth or in the upper lip.

Gene name

ADAMTS20

Inheritance

Autosomal recessive

Signs and symptoms

Puppies with this condition have a visible cleft in either the lip and/or hard palate. If it is not diagnosed early, puppies may leak milk from their nose while nursing, show signs of respiratory distress, or show signs of with weight loss due to difficulty with eating.

How is it diagnosed

Cleft lip with or without cleft palate is diagnosed by a veterinarian through evaluation of health history and a thorough examination of the dog, including the presence of clinical signs. Genetic testing assists veterinarians with diagnosis and helps breeders identify affected and carrier dogs.

Breeds at higher risk

Citations

Wolf ZT, Brand HA, Shaffer JR, Leslie EJ, Arzi B, Willet CE, Cox TC, McHenry T, Narayan N, Feingold E, Wang X, Sliskovic S, Karmi N, Safra N, Sanchez C, Deleyiannis FW, Murray JC, Wade CM, Marazita ML, Bannasch DL. Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet. 2015 Mar 23;11(3):e1005059. doi: 10.1371/journal.pgen.1005059. PMID: 25798845; PMCID: PMC4370697.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.