The first clinical signs of mucopolysaccharidosis VII can be seen in 2 to 4 week old puppies. Affected puppies show facial dysmorphia that includes a short broad face with low set ears. Affected dogs also have a broader body than their unaffected littermates. Affected puppies have difficulty standing and moving due to severe changes in the bone structure (spondyloepiphyseal dysplasia) and joint hyperlaxity.

Treatment is supportive care, however, affected puppies are usually euthanized on welfare grounds because of the severity of the condition. Experimental gene therapy may prove curative in the future.

There are many responsibilities to consider when breeding dogs. Regardless of test results it is important that your dog is in good general health and that you are in a position to care for the puppies if new responsible owners are not found. For first time or novice breeders, advice can be found at most kennel club websites.

This disease is autosomal recessive meaning that two copies of the mutation are needed for disease signs to occur. A carrier dog with one copy of the MPS VII mutation can be safely bred with a clear dog with no copies of the MPS VII mutation. About half of the puppies will have one copy (carriers) and half will have no copies of the MPS VII mutation. Puppies in a litter which is expected to contain carriers should be tested prior to breeding. Carrier to carrier matings are not advised as the resulting litter may contain affected puppies. Please note: It is possible that disease signs similar to the ones caused by the MPS VII mutation could develop due to a different genetic or clinical cause.