Musladin-Lueke syndrome (previously known as Chinese Beagle syndrome) is a

hereditary disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

that affects

beagles The beagle is a breed of small scent hound, similar in appearance to the much larger foxhound. The beagle was developed primarily for hunting hare, known as beagling. Possessing a great sense of smell and superior tracking instincts, the b ...

that manifests in extensive fibrosis of the skin and joints. It is named after beagle breeders Anton Musladin and Ada Leuke. It is caused by a number of

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

mutations affecting fibrillin-1, a major component of

microfibrils A microfibril is a very fine fibril, or fiber-like strand, consisting of glycoproteins and cellulose. It is usually, but not always, used as a general term in describing the structure of protein fiber, e.g. hair and spermatozoon, sperm tail. Its mos ...

. It affects several

organ systems An organ system is a biological system consisting of a group of organs that work together to perform one or more functions. Each organ has a specialized role in a plant or animal body, and is made up of distinct tissues. Plants Plants have ...

, including the skeleton, heart, skin, and muscle. According to the American Kennel Club's Canine Health Foundation, "beagles with Musladin-Leuke syndrome are born with several defects characterized by short outer toes on the front and sometimes all four feet, high set creased ears on a flat skull with extra cartilage in them, slant narrowed eyes, and very thick tight skin with little scruff." Affected dogs are usually smaller than average, and have a very stiff gait. Seizures have also been noted in affected dogs.

References

{{Reflist Hereditary dog diseases