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*

 

BreedDiseaseMode 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
Pointer

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

BreedDiseaseMode of inheritanceLaboratory testDemonstrated 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
haematological abnormalities

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

BreedBreedDiseaseMode of inheritanceLaboratory testDemonstrated 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

DiseaseIncidenceDog breeds at increased risk for specific DODsh2Sex

Craniomandibular
Osteopathy (CMO)

1.4 per 100,000 Cairn Terrier, Scottish Terrier, West Highland White Terrier   M=F

Hypertrophic
Osteodystrophy 
(HOD)

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 
1000

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

DiseaseIncidenceDog breeds at increased risk for specific DODsh2Sex

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 
Medial Coronoid
Process (FCP)

  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
Dissecans 
(OCD) Elbow

  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

TraitBreedMode of InheritanceComments
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
Homozygous phenotype is embryonic lethal

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


Autosomal dominant


Dominant mode of inheritance

 

 

 

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

TraitBreeds at Riskh2SexComments
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

TraitBreeds at Riskh2SexComments
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

ConditionIncidenceDog BreedsComments

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.

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