Tag Archives: cleft lip

Willow’s surgery for cleft palate

Willow is a beautiful Beagle who was born earlier this year with a cleft lip and palate.  As part of the defect, she has a bottom jaw that is slightly forward and bucked top front teeth – so her top teeth sink into the soft tissue of her lower jaw.

Cleft lip and palate are birth defects that have been traced to genetic factors.  (see my earlier articles on Cleft Palate in Dogs and The Genetics of Cleft Lip and Palate in Dogs)

Willow, before her surgery, showing the cleft lip

Willow, before her surgery, showing the cleft lip

The inside of Willow's mouth, showing the palate deformation more clearly

The inside of Willow’s mouth, showing the palate deformation more clearly

Last week, Willow had surgery to correct her birth defect.  She’s now home but taking strong pain relief medication and sucking on ice cubes for fluids.

Willow's mouth, post-surgery

Willow’s mouth, post-surgery

Willow in her Elizabethan collar (which brother Freddie believes makes her into a scary monster)

Willow in her Elizabethan collar (which brother Freddie believes makes her into a scary monster)

We are all hoping that the surgery was successful; her Elizabeth collar comes off later this week and she’ll be re-examined.  Then her owner will discuss what can be done to help with the mis-alignment of Willow’s jaws and teeth.

Cleft lip and palate are serious defects (Willow had to be hand-fed from birth because she couldn’t nurse like normal pups; many people will ‘look the other way’ when a pup is born with these defects and let it die from malnutrition.  Thankfully, Willow’s owner Gwen Hindmarsh wasn’t willing to do that).

Surgery is expensive and painful for the dog involved.  Dogs with cleft lip and palate in their lines should not be allowed to breed, as the defects don’t always appear in every litter.

Good luck Willow!

Kathleen Crisley, specialist in dog massage, rehabilitation and nutrition/food therapy, Canine Catering Ltd, Christchurch, New Zealand

 

 

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The genetics behind cleft lip and palate in dogs

Scientists studying birth defects in humans and purebred dogs have identified an association between cleft lip and cleft palate – conditions that occur when the lip and mouth fail to form properly during pregnancy – and a mutation in the ADAMTS20 gene.

“These results have potential implications for both human and animal health, by improving our understanding of what causes these birth defects in both species,” said Zena Wolf, BS, a graduate student at the University of California, Davis School of Veterinary Medicine.

Lentil, a French Bulldog born with cleft lip and palate.  Photo by CNN.  Read more about Lentil's story here

Lentil, a French Bulldog born with cleft lip and palate. Photo by CNN. Read more about Lentil’s story here

In both humans and dogs, cleft lip and cleft palate occur naturally with varying degrees of severity, and can be caused by various genetic and environmental factors. Since purebred dogs breed only with each other, there is less genetic variation to consider, making cleft lip and cleft palate easier to understand in these populations, Ms. Wolf explained.

From previous studies, the researchers knew that a mutation in the dog genes DLX5 and DLX6, which are involved in face and skull development, explained 12 of 22 cases of cleft palate. However, a mutation in the corresponding human genes accounted for just one of 30 cases in the study sample.

To search for additional genes that may be involved, Ms. Wolf and colleagues performed a genome-wide association study (GWAS), a study that compares the genomes of dogs with cleft lip and cleft palate to those of dogs without it. They found that the conditions were associated with a mutation in the gene ADAMTS20 that caused the protein it encodes to be shortened by 75 percent. Previous studies had shown that ADAMTS20 is involved in the development and shaping of the palate, but no specific mutations that occur in nature had been identified. A similar GWAS in people with cleft lip and cleft palate suggested that mutations in the human version of the ADAMTS20 gene may also increase the risk of these conditions.

“Cleft lip and cleft palate are complex conditions in people, and the canine model offers a simpler approach to study them,” Ms. Wolf said. “Not only does this research help people, but it helps dogs, too,” she added.

Future directions include searching for additional genes that may be associated with cleft lip and cleft palate, and extending the research to other breeds of dogs, such as Labrador Retrievers and Whippets.

Source:  The American Society of Human Genetics press release