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Cleft Lip & Palate with Syndactyly

Cleft Lip & Palate with Syndactyly (CLPS) is a disorder that causes an abnormal hole in the roof of the mouth (cleft palate), a hole between the lip and the nose (cleft lip), and joined toes.

Key Signs

Cleft palate, Cleft lip, Joined digits

Age of Onset

At birth

Present at birth

Inheritance

Autosomal Recessive

For autosomal recessive disorders, dogs with two copies of the variant are at risk of developing the condition. Dogs with one copy of the variant are considered carriers and are usually not at risk of developing the disorder. However, carriers of some complex variants grouped in this category may be associated with a low risk of developing the disorder. Individuals with one or two copies may pass the disorder-associated variant to their puppies if bred.

Likelihood of the Condition

High likelihood

At risk dogs are highly likely to show signs of this disease in their lifetime.

What to Do

Here’s how to care for a dog with CLPS

Partner with your veterinarian to make a plan regarding your dog’s well-being, including any insights provided through genetic testing. If your pet is at risk or is showing signs of this disorder, then the first step is to speak with your veterinarian.

For Veterinarians

Here’s what a vet needs to know about CLPS

Cases of this more complex syndrome will exhibit a CP but may also have a cleft lip and evidence of fused digits, as the condition's name suggests. The palate is the roof of the mouth separating the oral cavity and nasal passages. A CP occurs when the two sides of the palate fail to come together and fuse during embryonic development. This forms an opening between the mouth and nasal passages allowing milk to flow into the nasal passages and either spill out of the nostrils while nursing or the puppy may try to gag out the milk from its lower respiratory tract. These feeding difficulties lead to decreased growth and frequent chronic infections with a greatly increased risk of developing aspiration pneumonia.

Puppies suffering from severe CP are unlikely to survive through puppyhood without proper treatment. A CP can be operated on when a puppy is 3 to 4 months old. Puppies with severe clinical signs may need tube feeding to survive until the operation can be performed.

For Breeders

Planning to breed a dog with this genetic variant?

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the CLPS mutation can be safely bred with a clear dog with no copies of the CLPS mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the CLPS mutation. A dog with two copies of the CLPS mutation can be safely bred with a clear dog. The resulting puppies will all be carriers. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the CLPS mutation could develop due to a different genetic or clinical cause.

Technical Details

Gene ADAMTS20
Variant Deletion
Chromosome 27
Coordinate Start 10,553,479
Coordinate End 10,553,480

All coordinates reference CanFam3.1

References & Credit

Credit to our scientific colleagues:

Wolf, Z. T., Brand, H. A., Shaffer, J. R., Leslie, E. J., Arzi, B., Willet, C. E., … Bannasch, D. L. (2015). Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate. PLoS Genetics, 11(3), 1–22. View the article