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.
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.
- Pedigree Database
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