--- license: permission_granted topic_id: companion_breed_health_american_bulldog_robinow_like_syndrome_curly_tail_dog category: companion-breed-health title: "American Bulldog — Robinow-like syndrome; curly tail (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/american_bulldog_robinow_like_syndrome_curly_tail_4174.txt date_parsed: 2026-08-02 tokens_estimated: 594 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_american_bulldog_robinow_like_syndrome_curly_tail_dog/01_companion_breed_health_american_bulldog_robinow_like_syndrome_curly_tail_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "American Bulldog — Robinow-like syndrome; curly tail (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002186/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
American Bulldog — Robinow-like syndrome; curly tail (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: American Bulldog (Dog)Disorder: Robinow-like syndrome; curly tailMode of inheritance: Autosomal recessiveClin feat: Mansour et al. (2018): One group of three breeds (Bulldog, French Bulldog and Boston Terrier) is characterized by a wide head, short muzzle, widely spaced eyes, small size and abnormalities of the vertebral bones of the back and tail. These breeds are referred to as the screw tail breeds since the characteristic that is unique and easy to see in these breeds is their shortened and kinked tails. Niskanen et al. (2021): The DVL2 variant segregates in a recessive manner with caudal vertebral malformations and has incomplete and variable penetrance for thoracic vertebral malformations (Mansour et al. 2018). ... With CT examinations in American Staffordshire Terriers, we confirmed that the DVL2 allele is associated with caudal vertebral malformations and a brachycephalic phenotype. We also hypothesize that the variant may be linked to additional health conditions, including brachycephalic obstructive airway syndrome and congenital heart defects.Defect: yesPrevalence: Mansour et al. (2018): This DVL2 variant was fixed in Bulldogs and French Bulldogs and had a high allele frequency (0.94) in Boston Terriers. These same authors also reported that To confirm the association of the DVL2c.2044delC mutation with the screw tail phenotype, 667 dogs, from 49 breeds, were genotyped for the DVL2 mutation . . . . 177 dogs were from the screw tail breeds including 33 Bulldogs, 79 French Bulldogs and 65 Boston Terriers. All were homozygous for the mutant allele except 6 of the Boston Terriers (4 heterozygous, 2 wildtype). In addition, we identified dogs from several other breeds, including Pit bulls, Staffordshire Bull Terrier, Shih Tzu and mixed breeds, that are heterozygous or homozygous for the DLV2 mutation. The Pug breed has sometimes been classified with the screw tail breeds due to its curled tail; however, the tail is full length and does not have caudal vertebral malformations . . . . 29 Pugs tested were wild-type for the DVL2 mutation. Likewise, the Pug dogs do not share the high MAF with the screw tail breeds around the DVL2 mutation . . . . Three hundred and eighty five dogs from 43 other breeds were also tested and were all wild-type.
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 388254162 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Mansour et al. (2018) " identified a frameshift mutation in the WNT pathway gene DISHEVELLED 2 (DVL2) ... as the most strongly associated [with screw tail] variant in the canine genome ... . DVL2 cDNA was sequenced from the skeletal muscle of a dog with a normal tail and a screw tail Bulldog ... to confirm the presence of the mutation in the mRNA in the Bulldog sample (DVL2c.2044delC). ... This de…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2008. Single-nucleotide-polymorphism-based association mapping of dog stereotypes. Genetics — PubMed:PMID18505865 | DOI:10.1534/genetics.108.087866 — OMIA Phene_Article / Article
- 2012. Variation of BMP3 contributes to dog breed skull diversity. PLoS Genet — PubMed:PMID22876193 | DOI:10.1371/journal.pgen.1002849 — OMIA Phene_Article / Article
- 2011. Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping. PLoS Genet — PubMed:PMID22022279 | DOI:10.1371/journal.pgen.1002316 — OMIA Phene_Article / Article
- 2018. Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds. PLoS Genet — PubMed:PMID30521570 | DOI:10.1371/journal.pgen.1007850 — OMIA Phene_Article / Article
- 2014. A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. Vet Radiol Ultrasound — PubMed:PMID24833506 | DOI:10.1111/vru.12172 — OMIA Phene_Article / Article
- 2014. Computer-assisted radiographic calculation of spinal curvature in brachycephalic "screw-tailed" dog breeds with congenital thoracic vertebral malformations: reliability and clinical evaluation. PLoS One — PubMed:PMID25198374 | DOI:10.1371/journal.pone.0106957 — OMIA Phene_Article / Article
- 2021. Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies. Hum Genet — PubMed:PMID33599851 | DOI:10.1007/s00439-021-02261-8 — OMIA Phene_Article / Article
- 2019. Congenital malformations of the lumbosacral vertebral column are common in neurologically normal French Bulldogs, English Bulldogs, and Pugs, with breed-specific differences. Vet Radiol Ultrasound — PubMed:PMID31050057 | DOI:10.1111/vru.12753 — OMIA Phene_Article / Article
- 2024. The most common congenital malformations in dogs: Literature review and practical guide. Res Vet Sci — PubMed:PMID38492280 | DOI:10.1016/j.rvsc.2024.105230 — OMIA Phene_Article / Article
- 2024. Prevalence, clinical presentation, and etiology of myelopathies in 224 juvenile dogs. J Vet Intern Med — PubMed:PMID38483074 | DOI:10.1111/jvim.17045 — OMIA Phene_Article / Article
- 2018. Surgical management of screw-tail in dogs. Companion Animal — DOI:10.12968/coan.2018.23.5.287 — OMIA Phene_Article / Article
- 2021. Thoracic vertebral canal stenosis associated with vertebral arch anomalies in small brachycephalic screw-tail dog breeds. Vet Comp Orthop Traumatol — PubMed:PMID33285597 | DOI:10.1055/s-0040-1721375 — OMIA Phene_Article / Article
- (3 additional references in OMIA)
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:602151 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."