Molecular test for canine Van den Ende-Gupta syndrome (VDEGS), a hereditary skeletal development disease described in the Wire Fox Terrier, with severe mandibular prognathism, severe patellar luxation and other skeletal malformations. It is a canine model of the human disease caused by SCARF2. The test reports clear/carrier/affected status.

Documented in the Wire Fox Terrier (OMIA; Hytönen et al. 2016). The Toy Fox Terrier is not listed in OMIA for this entity; its inclusion requires validation (limited data).

- Severe mandibular prognathism\n- Severe patellar (rotulian) luxation\n- Skeletal malformations and developmental disturbances\n- Dental anomalies\n- No severe systemic involvement

Van den Ende-Gupta syndrome was first described in humans, associated with mutations in SCARF2. Hytönen et al. (2016) molecularly characterised the canine model in the Wire Fox Terrier, identifying a truncating 2-bp deletion in SCARF2.

- Genotype breeding animals before mating\n- Do not cross carrier × carrier (25 % affected homozygotes)\n- An affected animal must not be bred; carrier × clear does not produce affected animals\n- After a confirmed case, do not repeat the parental cross and communicate the status\n- Record the status in the pedigree

Differential diagnosis with other canine chondrodysplasias and skeletal dysplasias and with multifactorial patellar luxation. Radiography and dental examination guide the diagnosis. Symptomatic orthopaedic management of patellar luxation according to grade.

Hytönen MK et al. 2016. Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes. PLoS Genet. PMID: 27187611