Disease overview

Van den Ende-Gupta syndrome is an inherited skeletal development disease that leads to abnormal development of the jaw and other skeletal features.

Gene name

SCARF2

Inheritance

Autosomal recessive

Signs and symptoms

Clinical signs present at birth and include extension or protrusion of the lower jaw forward (severe mandibular prognathia). Increased risk of osteoarthritis, bowed legs, and luxation of the elbows and knees are possible.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Wirehaired Fox Terrier

Citations

Hytönen MK, Arumilli M, Lappalainen AK, Owczarek-Lipska M, Jagannathan V, Hundi S, Salmela E, Venta P, Sarkiala E, Jokinen T, Gorgas D, Kere J, Nieminen P, Drögemüller C, Lohi H. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. 2016 May 17;12(5):e1006037. doi: 10.1371/journal.pgen.1006037. PMID: 27187611; PMCID: PMC4871343.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.