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Cat (Felis catus) — Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy (hereditary; OMIA-verified species predisposition)

companion_species_health_scottish_fold_scottish_fold_osteochondrodysplasia_sfocd_oste_cat

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--- license: permission_granted topic_id: companion_species_health_scottish_fold_scottish_fold_osteochondrodysplasia_sfocd_oste_cat category: companion-species-health title: "Cat (Felis catus) — Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy (hereditary; OMIA-verified species predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-24 from local OMIA database dump." source_file: pdf-raw/species-health/cat_scottish_fold_scottish_fold_osteochondrodysplasia_sfocd_oste_580.txt date_parsed: 2026-08-24 tokens_estimated: 606 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-24 recovered: false path: companion-species-health/companion_species_health_scottish_fold_scottish_fold_osteochondrodysplasia_sfocd_oste_cat/01_companion_species_health_scottish_fold_scottish_fold_osteochondrodysplasia_sfocd_oste_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Cat (Felis catus) — Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy (hereditary; OMIA-verified species predisposition)" url: "https://omia.org/OMIA000319/9685/" retrieved: "2026-08-24" ref: "OMIA species-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 (species-specific disorder entries)" needs_review: false

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."---

Cat (Felis catus) — Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy (hereditary; OMIA-verified species predisposition)

Source: first-hand OMIA (University of Sydney) species-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

  • Species: Cat (Felis catus)
  • Disorder: Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy
  • Mode of inheritance: Data supporting incompletely penetrant autosomal dominant inheritance was reported by Todd (1972), Dyte and Turner (1973) and Takanosu et al. (2008).
  • Summary: This entry combines information about two phenes in cats: 'OMIA:000319-9685 : Ears folded (drop vs prick)' and ' OMIA:001315-9685 : Osteochondrodysplasia' as both are caused by the same mutation.
  • Clin feat: As summarised by Gandolfi et al. (2016), "Scottish fold cats, named for their unique ear shape, have a dominantly inherited osteochondrodysplasia involving malformation in the distal forelimbs, distal hindlimbs and tail, and progressive joint destruction." Rorden et al. (2021) "early work demonstrated that homozygous cats with two copies of this variant develop severe radiographic consequences. Subsequent breeding programs have mated heterozygous cats with straight-eared cats to ensure an equal mix of heterozygous (fold) and wild-type (nonfolded) offspring, in the hope of raising healthy cats. More recent radiological surveys suggest that these heterozygous cats may also have medical problems consisting of deformed distal extremities in the worst cases and accelerated onset of osteoarthritis. … Our aim was to determine if heterozygous cats exhibit radiological abnormalities…. Specifically, DNA and radiographs were acquired for 22 Scottish Fold cats. Four reviewers, blinded to the ear phenotype, assessed the lateral radiographs. … Although each reviewer, on average, gave a numerically worse 'severity score' to folded-ear cats relative to straight-ear cats, the images in heterozygous cats showed much milder radiological signs than previously published.”
  • Pathology: Gandolfi et al. (2016): "Preliminary histologic examinations suggested chondrocyte cell death in articular cartilage, and disturbed maturation of proliferative chondrocytes to hypertrophic chondrocytes in the growth plate [Malik et al., 1999]." Endochondral ossification of tail bones, carpal, metacarpal, tarsal and metatarsal bones are observed in affected animals. Joint inflammation results from the joint fusion, and exostoses (benign bone growths) may also occur (Rorden et al., 2020). [IT thanks DVM students Beverly Hwang and Grace Iacobbe for contributions to this entry in April 2022]

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 389717006 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
  • OMIA molecular-genetics note: Of the 23 genes in the mapped region (see above), Gandolfi et al. (2016) identified the most likely candidate as TPRV4, mutations in which are "responsible for a spectrum of dominantly inherited human skeletal dysplasias" (see 'Links to possible relevant human trait(s) and/or gene(s)' above). Sequencing of the coding sequence of this gene in 2 affecteds and 3 controls, followed by direct sequencin…

Causal variant(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.

  • Variant: allele E7; chromosome 19; nt change NM_173913.2:c.1057_1058del; protein NP_776338.1:p.(Y353L); pathogenicity class 1 — OMIA Variant / Variant_Phene

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.

  • 1995. Resolution of lameness associated with Scottish fold osteodystrophy following bilateral ostectomies and pantarsal arthrodeses. Journal of the American Animal Hospital Association — PubMed:PMID7552658 — OMIA Phene_Article / Article
  • 1999. Osteochondrodysplasia in Scottish Fold cats. Australian Veterinary Journal — PubMed:PMID10078353 | DOI:10.1111/j.1751-0813.1999.tb11672.x — OMIA Phene_Article / Article
  • 2004. Palliative irradiation of Scottish Fold osteochondrodysplasia. Vet Radiol Ultrasound — PubMed:PMID15605854 | DOI:10.1111/j.1740-8261.2004.04101.x — OMIA Phene_Article / Article
  • 2008. Incomplete dominant osteochondrodysplasia in heterozygous Scottish Fold cats. J Small Anim Pract — PubMed:PMID18339089 | DOI:10.1111/j.1748-5827.2008.00561.x — OMIA Phene_Article / Article
  • 1972. Folded-ear cats: further observations. Carnivore Genetics Newsletter — OMIA Phene_Article / Article
  • 1973. Further data on folded-ear cats. Carnivore Genetics Newsletter — OMIA Phene_Article / Article
  • 1975. Congenital bone lesions in cats with folded ears. Bulletin of the Feline Advisory Bureau — OMIA Phene_Article / Article
  • 1996. What is your diagnosis? Scottish Fold osteodystrophy. J Am Vet Med Assoc — PubMed:PMID8837640 — OMIA Phene_Article / Article
  • 2007. Osteochondrodysplasia in three Scottish Fold cats. J Vet Sci — PubMed:PMID17679781 | DOI:10.4142/jvs.2007.8.3.307 — OMIA Phene_Article / Article
  • 2009. The radiotherapy of osteochondorodysplasia in a Scottish Fold cat. Japanese Journal of Veterinary Anesthesia &amp; Surgery — OMIA Phene_Article / Article
  • 2002. Osteochondrodysplasia in poodle cats (Rex Fold). Kleintierpraxis — OMIA Phene_Article / Article
  • 2000. Osteochondrodystrophy in the Scottish fold cat. Tierarztliche Praxis Ausgabe Kleintiere Heimtiere — OMIA Phene_Article / Article
  • (15 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:113500 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:606835 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:606071 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:156530 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:168400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:181405 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:184095 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:600175 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:184252 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:605427 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:613719 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:613718 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
  • OMIM:617383 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Sources

Cat (Felis catus) — Scottish fold, Scottish Fold osteochondrodysplasia (SFOCD), osteodystrophy (hereditary; OMIA-verified species predisposition)
companion-species-healthPMID 7552658

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