Cleft Palate, CP1

Affected dogs may present with clefts of the hard and soft palate, an overbite (shorter mandible/lower jaw), and an absent or poorly developed nasal septum (cartilage that divides the nasal cavity). The cleft of the palate allows saliva and food to pass from the oral cavity into the nasal cavity. Affected dogs may sneeze and snort, cough and gag when they drink water or milk, have poor growth due to difficulty eating, and are predisposed to respiratory infections.

Signs are first recognized in puppies, often when they are only days old.

The cleft of the hard palate is typically easy to see, however, examination of the soft palate usually requires anesthesia. Thoracic (chest) radiographs may show signs of pneumonia.

Very small clefts may create no functional abnormalities. Surgical intervention may be needed for larger clefts.

Talk to your vet about your dog’s cleft lip or palate result so you can discuss whether any signs of this condition are present and plan care if needed.

Monitor your puppy for signs such as milk or food coming from the nose, coughing during feeding, or difficulty gaining weight.

If you notice any of these signs, contact your vet promptly for evaluation and guidance on safe feeding and possible treatment options.

This variant was first described in the Nova Scotia Duck Tolling Retriever. In addition to this DLX6 variant, an ADAMTS20 variant (that Embark also tests for) has been identified as a cause of cleft lip and/or cleft palate, mandibular/jaw abnormalities, and webbing or fusing of the toes (syndactyly) in a subset of Nova Scotia Duck Tolling Retrievers (NSDTRs). Cleft lips and/or palates may also occur from other genetic and environmental causes.

Penetrance: This variant is inherited in an autosomal recessive manner, meaning that a dog requires two copies of the variant to show signs of cleft palate from it.

Gene

DLX6 intron 2

Inheritance type

recessive

Clinical category

Skeletal

Citations

1. Wolf et al 2014
2. Wolf et al 2015

• Nova Scotia Duck Tolling Retriever