Canine and Feline Orthopedic Diseases with a Proven or Presumed Genetic Etiology
It has been estimated that more than 30% of all dogs presented to veterinarians with a musculoskeletal problem are suffering from a disease with a suspected or confirmed genetic etiology.
Orthopedic diseases with a proven or presumed genetic etiology are usually breed related and may be categorized as congenital, pediatric and adult bone and joint diseases. Breed predisposition for the different categories of disease are listed below:
- Congenital bone and joint diseases may be classified as:
- Dyostoses - malformation of individual bones or groups of bones
- Osteochondrodysplasias - disproportionate small stature "dwarfs"
- Pediatric bone and joint diseases
- Adult bone and joint diseases
This website is developed for owners, technicians, and veterinarians that need a quick answer about heritability of canine orthopedic disease. If more information is needed, please consult with the references below:
- Breur, G.J., N.E. Lambrechts, and R.J. Todhunter. 2012. "The Genetics of Canine Orthopedic Traits." In The Genetics of the Dog, edited by E.A. Ostrander and A. Ruvisnky, 2nd ed., 136-60. Wallingford, UK: CAB International.
- Towle, H.A., and G.J. Breur. 2012. "Miscellaneous Orthopedic Conditions." In Veterinary Surgery: Small Animal, by K.M. Tobias and S A Johnston, 1st ed., 2:1112-26. St. Louis, MO.: Elsevier Saunders.
- Towle, H.A.M. and G.J. Breur. 2004. "Dysostoses of the Canine and Feline Appendicular Skeleton." Journal of the American Animal Hospital Associattion 225 (11):1685-92.
- LaFond, E., G.J. Breur, and C.C. Austin. 2002. "Breed Susceptibility for Developmental Orthopedic Diseases in Dogs." Journal of the American Animal Hospital Association 38 (5): 467.
- Breur, G.J., G. Lust, and R.J. Todhunter. 2001. "Genetics of Canine Hip Dysplasia and Other Orthopedic Traits." In The Genetics of the Dog, by A. Ruvinsky and J. Sampson, 267-98. Wallingford, UK: CAB International.
A group of orthopedic congenital bone and joint diseases (skeletal dysplasias) with clinical signs present at or shortly after birth. Skeletal dysplasias can be classified as dysostoses (malformation of individual bones or groups of bones) and chondrodysplasias (disproportionate small stature "dwarfs").
Selected Dysostoses with a Known Genetic Etiology*
| Breed | Disease | Mode of inheritance |
|---|---|---|
Canines |
||
|
Australian Shepherd |
Polydactyly (extra digits) |
Autosomal recessive. X-linked lethal or sex-influenced autosomal |
|
Beagle |
Brachyury (short tail) |
Simple autosomal dominant with reduced penetrance |
| Boston Terrier | Hemivertebra | Unknown |
|
Bulldog |
Spina bifida Hemivertebra |
Unknown |
|
Cairn Terrier |
Anury (no tail) |
Unknown |
|
Chihuahua |
Hemimelia |
Unknown |
|
Cocker Spaniel |
Anury (no tail) |
Autosomal recessive |
| Dachshund | Anury (no tail) | Unknown |
| Doberman Pinscher | Anury (no tail) | Unknown |
| German Shepherd | Transitional vertebrae | Uknown - mainly the last lumbar or first sacral vertebrae |
|
German Short-haired |
Hemivertebra |
Simple autosomal recessive |
|
Great Pyrenees |
Polydactyly (extra digits) |
Autosomal dominant |
| Pembroke Welsh Corgi | Brachyury (short tail) | Dominant mode of inheritance - mutation in T gene. Homozygous phenotype is embryonic lethal. |
| Pekingese | Hemivertebra | Unknown |
| Pug | Hemivertebra | Unknown |
| Rottweiler | Anury (no tail) | Unknown |
|
Saint Bernard |
Polydactyly (extra digits) |
Autosomal recessive. X-linked lethal or sex-influenced autosomal |
| Sapsaree | Polydactyly (extra digits) | Dominant mode of inheritance - mutation in LMBR1 |
| Schipperke | Anury (no tail) | Unknown |
Felines |
||
|
Domestic Shorthair |
Hemimelia |
Autosomal |
Selected Canine Chondro and Osteochondrodysplasias with a Proven or Presumed Genetic Etiology*
Canines
| Breed | Disease | Mode of inheritance | Laboratory test | Demonstrated biochemical and/or molecular defects |
|---|---|---|---|---|
|
Akita |
Achondrogenesis |
Unknown |
No | |
|
Alaskan Malamute |
Chondrodysplasia |
Autosomal recessive |
No | Type II collagen is abnormally soluble in neutral salt solutions as it has significantly more proteoglycans with longer proteoglycan monomers and longer chondroitin sulfate side chains with increased amounts of chondroitin-6-sulfate |
|
Beagle |
Chondrodysplasia punctata Multiple epiphysealdysplasia Osteogenesisimperfecta |
Unknown Simple autosomal Unknown |
No No No |
COL1A2 mutation |
|
Bulldog |
Osteochondrodysplasia |
Unknown |
No | |
|
Bull Terrier |
Osteochondrodysplasia |
Unknown |
No | |
|
Cocker Spaniel |
Hypochondroplasia |
Unknown |
No | |
| Collie | Osteogenesis Imperfecta | No | ||
| Dachshund | Osteogenesis Imperfecta | Unknown | No | SERPINH1 mutation |
| Dunker | Multiple epiphyseal dysplasia | Unknown | No | |
| English Pointer | Enchondrodystrophy | Homozygous recessive | No | |
| Golden Retriever | Osteogenesis Imperfecta | Unknown | No | COL1A1 mutation |
|
Great Pyrenees |
Chondrodysplasia |
Autosomal recessive |
No | |
| Hygenhund | Multiple epiphyseal dysplasia | Unknown | No | |
| Irish Setter | Hypochondroplasia | Autosomal recessive | No | |
|
Labrador Retriever |
Oculoskeletal dysplasia |
Autosomal recessive |
No | COL9A2 and COL9A3 mutations |
|
Miniature Poodle |
Achondroplasia
Multiple epiphyseal dysplasia Pseudoachondroplasia |
Autosomal recessive
Unknown Unknown |
No
No No |
Primary defect in sulfation pathway or increased activity of sulfatase enzymes |
|
Mixed-breed dog |
Mucopolysaccharidosis VII |
Autosomal recessive |
Yes |
β-D-glucuronidase deficiency |
|
Norwegian Elkhound |
Chondrodysplasia |
Autosomal recessive |
No | |
|
Plott Hound |
Mucopolysaccharidosis I |
Autosomal recessive |
Yes | α-L-glucuronidase deficiency |
|
Samoyed |
Oculoskeletal dysplasia without hematological abnormalities Oculoskeletal dysplasia with |
Autosomal recessive Unknown |
No No |
|
|
Scottish Terrier |
Achondroplasia Idiopathic multifocal osteopathy |
Unknown Unknown |
No No |
|
|
Scottish Deerhound |
Pseudoachondroplasia |
Autosomal recessive |
No | |
| Shiba Inu | Short-spine syndrome | Unknown | No |
Felines
| Breed | Breed | Disease | Mode of inheritance | Laboratory test | Demonstrated biochemical and/or molecular defects |
|---|---|---|---|---|---|
|
Domestic Shorthair |
MucopolysaccharidosisI |
Unknown |
|||
|
Siamese |
Mucopolysaccharidosis VI |
Simple autosomal recessive |
|||
|
Siamese |
Multiple cartilagenous exostoses |
Unknown |
Breed Predisposition for Developmental Orthopedic Diseases* ‡
Pediatric Bone Conditions
| Disease | Incidence | Dog breeds at increased risk for specific DODs | h2 | Sex |
|---|---|---|---|---|
|
Craniomandibular |
1.4 per 100,000 | Cairn Terrier, Scottish Terrier, West Highland White Terrier | M=F | |
|
Hypertrophic |
2.8 per 100,000 | Boxer, Chesapeake Bay Retriever, German Shepherd Dog, Golden Retriever, Great Dane, Irish Setter, Labrador Retriever, Weimaraner | 0.68 | M>F |
|
Panosteitis |
2.6 per |
Afghan Hound, Akita, American Cocker Spaniel, American Staffordshire Terrier, Basset Hound, Bearded Collie, Bernese Mountain Dog, Boxer, Bull Terrier, Bulldog, Chesapeake Bay Retriever, Chow Chow, Dalmation, Doberman Pinscher, English Setter, English Springer Spaniel, Giant Schnauzer, German Shepherd Dog, German Shorthaired Pointer, Golden Retriever, Great Dane, Great Pyrenees, Irish Wolfhound, Labrador Retriever, Mastiff, Neapolitan Mastiff, Newfoundland, Rhodesian Ridgeback, Rottweiler, Saint Bernard, Shih Tzu, Weimaraner, West Highland White Terrier |
0.13 | M>F |
Pediatric Joint Conditions
| Disease | Incidence | Dog breeds at increased risk for specific DODs | h2 | Sex |
|---|---|---|---|---|
|
Canine Hip Dysplasia (CHD) |
21.1-28.1 per 1000 |
Airedale, Alaskan malamute, Bearded Collie, Bernese Mountain Dog, Bloodhound, Border Collie, Bouvier des Flandres, Briard, Brittany Spaniel, Bulldog, Bullmastiff, Chesapeake Bay Retriever, Chow Chow, English Springer Spaniel, German Shepherd Dog, German Wirehaired Pointer, Giant Schnauzer, Golden Retriever, Gordon Setter, Great Dane, Great Pyrenees, Keeshond, Kuvasz, Labrador Retriever, Mastiff, Neapolitan Mastiff, Newfoundland, Norwegian Elkhound, Old English Sheepdog, Pointer, Portuguese Water Dog, Rottweiler, Saint Bernard, Samoyed, Tree Walker Coonhound |
0.25 - 0.60 | |
|
Fragmented |
Basset Hound, Bernese Mountain Dog, Bouvier des Flandres, Bullmastiff, Chow Chow, German Shepherd Dog, Golden Retriever, Gordon Setter, Irish Wolfhound, Labrador Retriever, Mastiff, Newfoundland, Rottweiler, Saint Bernard | 0.18 - 0.31 | M>F | |
|
Legg-Calvé-Perthes Disease (LCP) |
Australian Shepherd, Cairn Terrier, Chihuahua, Dachshund, Lhasa Apso, Miniature Pinscher, Pug, Toy Poodle, West Highland White Terrier, Yorkshire Terrier | M=F | ||
|
Osteochondritis |
Chow Chow, German Shepherd Dog, Golden Retriever, Great Dane, Labrador Retriever, Newfoundland, Rottweiler | M>F | ||
| OCD Sacrum | German Shepherd Dog | M>F | ||
|
OCD Shoulder |
Bernese Mountain Dog, Border Collie, Bouvier des Flandres, Boxer, Bullmastiff, Chesapeake Bay Retriever, Dalmation, English Setter, German Shorthaired Pointer, German Shepherd Dog, German Wirehaired Pointer, Golden Retriever, Great Dane, Great Pyrenees, Irish Wolfhound, Kuvasz, Labrador Retriever, Mastiff, Munsterland, Newfoundland, Old English Sheepdog, Rottweiler, Saint Bernard, Standard Poodle | 0.10 - 0.70 | M>F | |
|
OCD Stifle Joint |
Boxer, Bulldog, German Shepherd Dog, Golden Retriever, Great Dane, Irish Wolfhound, Labrador Retriever, Mastiff, Rottweiler | M>F | ||
|
OCD Talocrural Joint |
Labrador Retriever, Rottweiler, Bullmastiff | M>F | ||
|
Ununited Anconeal Process (UAP) |
Basset Hound, Bernese Mountain Dog, Chinese Shar Pei, Chow Chow, English Setter, German Shepherd Dog, Golden Retriever, Labrador Retriever, Mastiff, Newfoundland, Pomeranian, Rottweiler, Saint Bernard | M>F | ||
|
Patella Luxation - medial and lateral (PL) |
Akita, American Cocker Spaniel, Australian Terrier, Basset Hound, Bichon Frise, Boston Terrier, Bulldog, Cairn Terrier, Cavalier King Charles Spaniel, Chihuahua, Chinese Shar Pei, Chow Chow, Flat-coated Retriever, Great Pyrenees, Japanese Chin, Keeshond, Lhasa Apso, Maltese, Miniature Pinscher, Miniature Poodle, Papillon, Pekingese, Pomeranian, Pug, Shih Tzu, Silky Terrier, Standard Poodle, Toy Fox Terrier, Toy Poodle, West Highland White Terrier, Wirehaired Fox Terrier, Yorkshire Terrier | M<F |
Canine Dysostoses with a Proven or Presumed Genetic Etiology
| Trait | Breed | Mode of Inheritance | Comments |
|---|---|---|---|
| Anury |
Cairn Terrier, Cocker Spaniel, Dachshund, Doberman Pinscher, Rottweiler, Schipperke Cocker Spaniel Pembroke Welsh Corgi |
Unknown Autosomal recessive Dominant mode of inheritance |
Mutation in T-box gene |
| Brachyury (short or bobtail) |
Beagle Pembroke Welsh Corgi |
Autosomal dominant with reduced penetrance Dominant mode of inheritance |
Mutation in T-box gene |
| Hemimelia | Chihuahua | Unknown | |
|
Hermivertebra |
Bulldog, Pekingese, Pug, Boston Terrier German Short-haired Pointer |
Unknown Autosomal recessive |
|
| Polydactyly |
Saint Bernard Australian Shepherd Great Pyrenees Sapsaree |
Autosomal recessive. X-linked lethal or sex-influenced autosomal |
Mutation in LMBR1 |
| Transitional Vertebrae | German Shepherd Dogs | Unknown | Mainly the last lumbar or first sacral vertebrae |
Pediatric Bone and Joint Conditions with a Proven or Presumed Genetic Etiology
Pediatric bone conditions
| Trait | Breeds at Risk | h2 | Sex | Comments |
|---|---|---|---|---|
| Craniomandibular Osteopathy |
Cairn Terrier, Scottish Terrier, West Highland White Terrier |
|
M = F |
Autosomal recessive in West Highland White Terriers C |
| Hypertrophic Osteodystrophy |
Boxer, Chesapeake Bay Retriever, German Shepherd Dog, Golden Retriever, Great Dane, Irish Setter, Labrador Retriever, Weimaraner |
0.68 |
M > F | |
| Panosteitis | Afghan Hound, Akita, American Cocker Spaniel, American Staffordshire Terrier, Basset Hound, Bearded Collie, Bernese Mountain Dog, Boxer, Bull Terrier, Bulldog, Chesapeake Bay Retriever, Chow Chow, Dalmation, Doberman Pinscher, English Setter, English Springer Spaniel, Giant Schnauzer, German Shepherd Dog, German Shorthaired Pointer, Golden Retriever, Great Dane, Great Pyrenees, Irish Wolfhound, Labrador Retriever, Mastiff, Neapolitan Mastiff, Newfoundland, Rhodesian Ridgeback, Rottweiler, Saint Bernard, Shar-Pei, Shih Tzu, Weimaraner, West Highland White Terrier | 0.13 | M > F |
Pediatric Joint Conditions
| Trait | Breeds at Risk | h2 | Sex | Comments |
|---|---|---|---|---|
| Osteochondritis Dissecans (OCD) Shoulder |
Bernese Mountain Dog, Border Collie, Bouvier, Boxer, Bullmastiff, Chesapeake Bay Retriever, Dalmation, English Setter, German Short-haired Pointer, German Shepherd Dog, German Wire-haired Pointer, Golden Retriever, Great Dane, Great Pyrenees, Irish Wolfhound, Kuvasz, Labrador Retriever, Mastiff, Munsterland, Newfoundland, Old English Sheepdog, Rottweiler, Saint Bernard, Standard Poodle |
0.10-0.70 |
M > F |
Polygenic mode of inheritance |
| OCD Elbow | Chow Chow, German Shepherd Dog, Golden Retriever, Great Dane, Labrador Retriever, Newfoundland, Rottweiler | M > F | Polygenic mode of inheritance | |
| Fragmented Medial Coronoid Process | Basset Hound, Bernese Mountain Dog, Bouvier, Bullmastiff, Chow Chow, German Shepherd Dog, Golden Retriever, Gordon Setter, Irish Wolfhound, Labrador Retriever, Mastiff, Newfoundland, Rottweiler, Saint Bernard | 0.18-0.31 | M > F | Polygenic mode of inheritance |
| Ununited Anconeal Process | Basset Hound, Bernese Mountain Dog, Chow Chow, English Setter, German Shepherd Dog, Golden Retriever, Labrador Retriever, Mastiff, Newfoundland, Pomeranian, Rottweiler, Saint Bernard, Shar-Pei | M > F | Polygenic mode of inheritance | |
| Hip Dysplasia | Airedale, Alaskan Malamute, Bearded Collie, Bernese Mountain Dog, Bloodhound, Border Collie, Bouvier, Briard, Brittany Spaniel, Bulldog, Bullmastiff, Chesapeake Bay Retriever, Chow Chow, English Springer Spaniel, German Shepherd Dog, German Wire-haired Pointer, Giant Schnauzer, Golden Retriever, Gordon Setter, Great Dane, Great Pyrenees, Keeshond, Kuvasz, Labrador Retriever, Mastiff, Neapolitan Mastiff, Newfoundland, Norwegian Elkhound, Old English Sheepdog, Pointer, Portuguese Water Dog, Rottweiler, Saint Bernard, Samoyed, Tree Walking Coonhound | 0.25-0.60 | ||
| Legg-Calvé Perthes Disease | Australian Shepherd, Cairn Terrier, Chihuahua, Dachshund, Lhasa Apso, Manchester Terrier, Miniature Pinscher, Pug, Toy Poodle, West Highland White Terrier, Yorkshire Terrier | M=F | Autosomal recessive or multifactorial with a high heritability | |
| OCD Stifle Joint | Boxer, Bulldog, German Shepherd Dog, Golden Retriever, Great Dane, Irish Wolfhound, Labrador Retriever, Mastiff, Rottweiler | M > F | ||
| Patella Luxation (Medial and Lateral) | Akita, American Cocker Spaniel, Australian Terrier, Basset Hound, Bichon Frise, Boston Terrier, Bulldog, Cairn Terrier, Cavalier King Charles Spaniel, Chihuahua, Chow Chow, Flat-coated Retriever, Great Pyrenees, Japanese Chin, Keeshond, Lhasa Apso, Maltese, Miniature Pinscher, Miniature Poodle, Papillon, Pekingese, Pomeranian, Pug, Shar-Pei, Shih Tzu, Silky Terrier, Standard Poodle, Toy Fox Terrier, Toy Poodle, West Highland, White Terrier, Wire-haired Fox Terrier, Yorkshire Terrier | 0.17 | M > F | Polygenic mode of inheritance |
| OCD Talocrural Joint | Labrador Retriever, Rottweiler, Bullmastiff | M < F | ||
| OCD Sacrum | German Shepherd Dog | M > F |
Adult Bone and Joint Conditions with a Proven or Presumed Genetic Etiology
| Condition | Incidence | Dog Breeds | Comments |
|---|---|---|---|
|
Cranial Cruciate Ligament Disease (CCLD) |
17.4 per 1000 | Akita, American Staffordshire Terrier, Chesapeake Bay Retriever, Labrador Retriever, Mastiff, Neapolitan Mastiff, Newfoundland, Rottweiler, Saint Bernard | Newfoundland: heritability is 0.15-0.27, recessive mode of inheritance with 51% penetration |
| Fracture | Greyhound, Miniature Pinscher, Italian Greyhound, Papillon,Poodle, Shetland Sheepdog, Whippet | These breeds, except Shetland Sheepdog and Greyhound were also at increased risk for radius/ ulna fractures but not for tibia/ fibula fractures. | |
| Fracture | Miniature breeds | Radius/ ulna fractures | |
| Fracture | Brittany Spaniel, Cocker Spaniel, Rottweiler | Humeral condyle fractures; incomplete ossification of the humeral condyle was suggested as a predisposing factor. May have a recessive mode of inheritance. | |
|
Neoplasia |
Doberman Pinscher, Great Dane, Greyhound, Irish Setter, Irish Wolfhound, Rottweiler, Saint Bernard, Scottish Deerhound | Patterns of familial aggregation of osteosarcoma for Saint Bernards have been identified. | |
|
Intervertebral Disk Disease (IVDD, Disk Degeneration and Calcification) |
Dachshund | Life time risk is estimated at 18-24%. Heritability of disk chondroid degeneration with calcification is 0.47-0.87. An autosomal polygenic pattern of inheritance has been proposed. No dominance or sex linkage has been found. | |
|
Spondylosis Deformans |
Boxer, Italian Boxer | Prevalence may be as high as 91% and 84% respectively for the 2 breeds. | |
| Diffuse idiopathic skeletal hyperostosis (DISH) | Boxer | Prevalence 41%; may represent a severe manifestation of spondylosis deformans. |
* Breur GJ, Lust G, Todhunter RJ. Genetics of canine hip dysplasia and other orthopedic traits, in Ruvinsky A, Sampson, J (eds): The Genetics of the Dog. New York, NY, CABI Publishing, 2001, pps 267-298.
‡ LaFond E, Breur GJ, and Austin CC. Breed susceptibility for developmental orthopedic diseases in dogs. Journal of the American Animal Hospital Association 2002; 38: 467-477.
