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Chondrodystrophy (CDDY and IVDD Risk) with or without Chondrodysplasia (CDPA)

Chondrodystrophy (CDDY and IVDD Risk) with or without Chondrodysplasia (CDPA) is a genetic condition in dogs that leads to shortened limbs and an increased risk of intervertebral disc disease.

Affected Genes: CFA12 FGF4, CFA18 FGF4

Inheritance: Autosomal Dominant

Variant(canFam6):
chr12:33569125-33569126 insertion

Breed: American Bully
American Pit Bull Terrier
Aussiedoodle
Australian Cobberdog
Australian Labradoodle
Australian Shepherd
Basset Hound
Beagle
Bernedoodle
Bichon Frise
Bordoodle
Boykin Spaniel
Brittany
Cardigan Welsh Corgi
Catahoula Leopard Dog
Cavachon
Cavalier King Charles Spaniel
Cavapoo
Cavapoochon
Chesapeake Bay Retriever
Chihuahua
Chinese Crested
Clumber Spaniel
Cockapoo
Coton de Tulear
Dachshund
Danoodle
English Cocker Spaniel
English Springer Spaniel
English Toy Spaniel
French Bulldog
German Shepherd Dog
Goldendoodle
Havanese
Irishdoodle
Jack Russell Terrier
Labradoodle
Labrador Retriever
Lowchen
Maltese
Maltipoo
Miniature American Shepherd
Miniature Australian Shepherd
Miniature Longhaired Dachshund
Miniature Pinscher
Miniature Poodle
Miniature Schnauzer
Miniature Smooth Dachshund
Miniature Wirehaired Dachshund
Newfypoo
Nova Scotia Duck Tolling Retriever
Papillon
Pekingese
Pembroke Welsh Corgi
Poodle
Portuguese Water Dog
Pyrenean Shepherd
Rat Terrier
Russian Tsvetnaya Bolonka
Schnoodle
Scottish Terrier
Sealyham Terrier
Sheepadoodle
Shih Tzu
Shiloh Shepherd
Skye Terrier
Spanish Water Dog
Standard Poodle
Standard Smooth Dachshund
Standard Wirehaired Dachshund
Sussex Spaniel
Teddy Roosevelt Terrier
Toy Australian Shepherd
Toy Poodle
Weimaraner
White Shepherd Dog
Yorkiepoo
Yorkshire Terrier

General Information: Chondrodystrophy (CDDY) with or without Chondrodysplasia (CDPA) is a genetic disorder in dogs characterized by the development of short limbs and an elevated risk of intervertebral disc disease (IVDD). This condition arises due to mutations in the FGF4 gene on chromosomes 12 and 18, resulting in premature degeneration and calcification of the intervertebral discs and the bones, respectively. Dogs with CDDY are prone to back pain, difficulty walking, and in severe cases, paralysis due to disc herniation that compresses the spinal cord. Chondrodysplasia (CDPA) specifically causes short, curved limbs commonly seen in breeds like Dachshunds and Basset Hounds. Symptoms of these conditions can include a distinctive gait, back pain, reluctance to move, and, in advanced cases, neurological deficits.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Possibly Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for Chondrodystrophy (CDDY) and Chondrodysplasia (CDPA) focuses on identifying specific mutations in the FGF4 gene on chromosomes 12 and 18. The mutation on chromosome 12 is linked to both shortened limbs and an increased risk of IVDD, while the mutation on chromosome 18 is associated with the short-legged phenotype but not with IVDD. These conditions are inherited in an autosomal dominant manner, meaning that dogs with one copy of the mutated gene are at increased risk, and those with two copies may have more severe phenotypes. Genetic testing is crucial for breeding decisions to avoid pairing dogs that carry these mutations, thereby reducing the risk of producing offspring with severe IVDD or disproportionate dwarfism. By utilizing genetic information, breeders can maintain desired breed characteristics, like short limbs, while minimizing the health risks associated with these mutations.

References:
Bannasch D, Batcher K, Leuthard F, Bannasch M, Hug P, Marcellin-Little DJ, Dickinson PJ, Drögemüller M, Drögemüller C, Leeb T. The Effects of FGF4 Retrogenes on Canine Morphology. Genes (Basel) 2022 13(2):325.

Batcher K, Dickinson P, Giuffrida M, Sturges B, Vernau K, Knipe M, Rasouliha SH, Drogemuller C, Leeb T, Maciejczyk K, Jenkins CA, Mellersh C, Bannasch D. Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel) 2019 10(6):435.

Bellamy KKL, Lingaas F. Short and sweet: foreleg abnormalities in Havanese and the role of the FGF4 retrogene. Canine Med Genet. 2020 7(1):19.

Brown EA, Dickinson PJ, Mansour T, Sturges BK, Aguilar M, Young AE, Korff C, Lind J, Ettinger CL, Varon S, Pollard R, Brown CT, Raudsepp T, Bannasch DL. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci USA. 2017 114(43):11476-11481.

Dickinson PJ, Bannasch DL. Current Understanding of the Genetics of Intervertebral Disc Degeneration. Front Vet Sci. 2020 7:431.

Fenn J, Olby NJ, and Canine Spinal Cord Injury Consortium (CANSORT-SCI). Classification of Intervertebral Disc Disease. Front Vet Sci. 2020 7:579025.

Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, Mosher DS, Spady TC, Elkahloun A, Cargill M, Jones PG, Maslen CL, Acland GM, Sutter NB, Kuroki K, Bustamante CD, Wayne RK, Ostrander EA. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science. 2009 325(5943):995-998.