Achondroplasia (dwarfism; short limbs) is an autosomal-recessive genetic disease of dogs characterized by disproportionate dwarfism, macrocephaly, facial hypoplasia and vertebral malformations.
This disease, commonly reported in the German Shepherd, is associated with a failure of the oropharyngeal ectoderm of the cranial pharyngeal duct. Craniopharyngiomas also cause subnormal secretion of growth hormone, which results in dwarfism.
Some dog breeds traditionally have been classified as achondroplastic based on their phenotypic appearance, such as the Dachshund, Basset Hound, Irish Setter and Bulldog breeds. Although the most frequent mutation in achondroplastic humans originates from a G/A transition in nucleotide 1138 of the transmembrane domain of gene FGFR3, a similar mutation seems not to be involved in the bulldog, basset hound, and dachshund with the osteochondrodysplastic phenotype.
Achondroplasia has also been reported in association with oculoskeletal dysplasia in the Samoyed and Labrador Retriever. Osteochondrodysplasias have been reported mainly in dogs, including the Alaskan Malamute, Scottish deer hound, Norwegian elk hound, Maremmano–Abruzzese shepherd, Great Pyrenees, German shepherd, miniature poodle, Labrador retriever, beagle, and cocker spaniel. Most of the alterations in these dogs result from a de novo mutation, but in some cases they appear to be due to autosomal recessive inheritance.
In typical cases of achondroplasia, affected pups are born with severe anatomical deformities such as dorsoventral flattening of the thoracic cavity, malpositioning of the scapula and enlarged, disproportionate heads.
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