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Craniomandibular Osteopathy

Craniomandibular Osteopathy (CMO) is a genetic bone disease in dogs causing abnormal bone growth in the jaw and skull, leading to pain and difficulty in eating.

Affected Genes: SLC37A2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr5:9432183: G>A

Breed: Aussiedoodle
Australian Shepherd
Biewer
Cairn Terrier
Jack Russell Terrier
Lancashire Heeler
Miniature American Shepherd
Miniature Australian Shepherd
Parson Russell Terrier
Russell Terrier
Scottish Terrier
Skye Terrier
Toy Australian Shepherd
West Highland White Terrier
Yorkiepoo
Yorkshire Terrier

General Information: Craniomandibular Osteopathy (CMO) is an inherited skeletal disorder that affects various dog breeds, including Australian Shepherds, Jack Russell Terriers, and West Highland White Terriers. Dogs with CMO typically begin showing symptoms between four to eight months of age, presenting with signs such as discomfort while eating or chewing due to abnormal bone growth in the mandible, occipital and temporal skull bones, and the tympanic bulla. Other clinical signs include jaw swelling, difficulty opening the mouth, excessive drooling, fever, and challenges in holding food or toys. Most dogs with CMO experience a cessation of abnormal bone growth by one year of age, and in some cases, the bony growth may even recede or resolve completely with or without treatment. While CMO is generally non-fatal, the associated jaw pain can lead to a reluctance to eat, potentially causing secondary malnutrition. In severe cases, pain and the resulting quality of life issues may lead to considerations of euthanasia.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely Not Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SLC37A2 gene is crucial for identifying carriers of the mutation responsible for Craniomandibular Osteopathy (CMO) in dogs. This disease is inherited in an autosomal recessive manner, requiring two copies of the mutated gene for the condition to develop. Carrier dogs, possessing only one copy of the mutation, typically do not exhibit symptoms but can pass the gene to their offspring. When two carriers are bred, each pup has a 25% chance of developing the condition and a 50% chance of being a carrier. To prevent affected offspring and eliminate the mutation from breeding lines, it is advised not to breed two carriers. Dogs that are not carriers pose no increased risk of having pups with the condition. By identifying carriers and making informed breeding decisions, breeders can help eliminate CMO from dog populations, promoting healthier and more robust future generations. Testing and careful management of breeding practices are crucial for maintaining the overall health and genetic integrity of the breed, as dogs that are not carriers of the mutation have no increased risk of producing pups affected by CMO. It is also important to consider that other genetic or environmental factors may contribute to similar conditions, so comprehensive genetic screening is recommended to ensure thorough assessment and care.

References:
Hytonen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drogemuller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 12(5):e1006037.

Padgett GA, Mostosky UV. The mode of inheritance of craniomandibular osteopathy in West Highland White terrier dogs. Am J Med Genet. 1986 25(1):9-13.

Shorenstein B, Schwartz P, Kross PH. What is your diagnosis? Craniomandibular osteopathy. J Am Vet Med Assoc. 2014 245(5):491-492.