Chondrodysplasia (CDPA)
Shortened legs
Many dog breeds are defined by the presence of shortened legs that result from abnormal growth of cartilage and changes in the structure of growth plates. This leads to shortened leg bones that exhibit a bowed appearance. Two conditions have been described that cause shortened legs and are known as Chondrodysplasia (CDPA) and Chondrodystrophy (CDDY). CDPA is caused by a mutation in a bone development gene on chromosome 18 called FGF4. A dog only needs to inherit one copy of the mutation to exhibit shortened legs.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and do not possess the mutation that leads to shortened legs.
B. (CARRIER/AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with shortened legs. They will have shortened legs and, if bred, will pass the mutation to 50% of its offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with shortened legs. They will have shortened legs and, if bred, will pass the mutation to 100% of their offspring.
Recommended For:
- Basset Hound
- Beagle
- Beagle-Harrier
- Bichon Frise
- Cardigan Welsh Corgi
- Cavalier King Charles Spaniel
- Chihuahua
- Chinese Crested
- Doberman Pinscher
- English Springer Spaniel
- French Bulldog
- Havanese
- Jack Russell Terrier
- Miniature Dachshund
- Miniature Long-Haired Dachshund
- Miniature Poodle
- Miniature Rat Terrier
- Miniature Smooth-Haired Dachshund
- Miniature Wire-Haired Dachshund
- Nova Scotia Duck Tolling Retriever
- Pekingese
- Pembroke Welsh Corgi
- Portuguese Water Dog
- Rat Terrier
- Scottish Terrier
- Shih Tzu
- Standard Dachshund
- Teddy Roosevelt Terrier
- Toy Poodle
- Yorkshire Terrier
Additional Details
Inheritances
Autosomal Dominant
Affected gene
FGF4L1
Chromosome
Ch. 18
Mutation
5kb Insertion Containing A FGF4 Retrogene
Publication:
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 Aug 21;325(5943):995-8. [PubMed: 19608863]