{"topic_id":"companion_breed_health_exotic_shorthair_omia3818_cat","category":"companion-breed-health","context":"---\nlicense: permission_granted\ntopic_id: companion_breed_health_exotic_shorthair_omia3818_cat\ncategory: companion-breed-health\ntitle: \"Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)\"\nlang: en\nsource: \"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.\"\nsource_file: pdf-raw/breed-health/exotic_shorthair_omia3818_3818.txt\ndate_parsed: 2026-08-02\ntokens_estimated: 315\nverification:\n  method: substring_match\n  claims: 6\n  passed: 6\n  date: 2026-08-02\nrecovered: false\npath: companion-breed-health/companion_breed_health_exotic_shorthair_omia3818_cat/01_companion_breed_health_exotic_shorthair_omia3818_cat.md\nsource_document: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\ncitation:\n  authority: \"OMIA — Online Mendelian Inheritance in Animals (University of Sydney)\"\n  title: \"Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)\"\n  url: \"https://omia.org/OMIA001551/9685/\"\n  retrieved: \"2026-08-02\"\n  ref: \"OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70\"\n  doc_type: \"academic animal-genetics database (breed-specific disorder entries)\"\n  needs_review: false\n\n\n# Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)\n\nSource: 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.\n\n## Claims\n\n- `Breed: Exotic Shorthair (Cat)`\n- `Disorder: `\n- `Mode of inheritance: Multifactorial`\n- `Summary: Information relating to the ALX1 variant, which causes in heterozygous animals an extreme brachycephalic phenotype (known as “Contemporary” Burmese) and in homozygous animals lethal frontonasal dysplasia (Lyons et al., 2016) has previously been listed here. The inforamtion has been moved to 'a href=https://www.omia.org/OMIA002717/9685/OMIA:002717-9685/a : Frontonasal dysplasia, ALX1-related in Felis catus' [13/06/2023].`\n- `Clin feat: Brachycephaly in cats is characterised by a shortened head length (Gundemir et al. 2023). The shortening of the muzzle typically creates a 'squashed nose' appearance. Clinical features may include respiratory difficulties and airway obstructions due to normal sized nasal soft tissue structures in a reduced size cranium, kinking of the nasolacrimal ducts, and potential ophthalmic, neurological, dermatological, and reproductive issues - particularly in relation to abnormally-shaped skulls having difficulty passing through the birth canal (Schlueter et al., 2009). IT thanks DVM student Mon Wink, who provided the basis of this contribution in May 2023.`\n- `Defect: yes`\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2016. Evidence of selection signatures that shape the Persian cat breed.. Mamm Genome — PubMed:PMID26956354 | DOI:10.1007/s00335-016-9623-1 — OMIA Phene_Article / Article\n- 2016. Erratum to: Evidence of selection signatures that shape the Persian cat breed.. Mamm Genome — PubMed:PMID27007993 | DOI:10.1007/s00335-016-9626-y — OMIA Phene_Article / Article\n- 2010. [Brachycephaly in dog and cat: a \"human induced\" obstruction of the upper airways].. Pneumologie — PubMed:PMID20632241 | DOI:10.1055/s-0030-1255513 — OMIA Phene_Article / Article\n- 2003. The course of the nasolacrimal duct in brachycephalic cats.. Anat Histol Embryol — PubMed:PMID12919073 | DOI:10.1046/j.1439-0264.2003.00464.x — OMIA Phene_Article / Article\n- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats.. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article\n- 2016. Brachycephaly: an issue for cats as well as dogs.. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article\n- 2021. Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly.. Integr Org Biol — PubMed:PMID34409262 | DOI:10.1093/iob/obab023 — OMIA Phene_Article / Article\n- 2021. Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array.. PLoS One — PubMed:PMID33630878 | DOI:10.1371/journal.pone.0247092 — OMIA Phene_Article / Article\n- 2023. Flat-faced or non-flat-faced cats? That is the question.. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article\n- 2023. Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats.. Animals (Basel) — PubMed:PMID36830403 | DOI:10.3390/ani13040614 — OMIA Phene_Article / Article\n- 2023. Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds.. Anat Histol Embryol — PubMed:PMID36793158 | DOI:10.1111/ahe.12909 — OMIA Phene_Article / Article\n- 2023. Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats.. Vet Surg — PubMed:PMID36882053 | DOI:10.1111/vsu.13948 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.\n- 2016. Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID26956354 | DOI:10.1007/s00335-016-9623-1 — OMIA Phene_Article / Article\n- 2016. Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID27007993 | DOI:10.1007/s00335-016-9626-y — OMIA Phene_Article / Article\n- 2010. [Brachycephaly in dog and cat: a \"human induced\" obstruction of the upper airways]. Pneumologie — PubMed:PMID20632241 | DOI:10.1055/s-0030-1255513 — OMIA Phene_Article / Article\n- 2003. The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol — PubMed:PMID12919073 | DOI:10.1046/j.1439-0264.2003.00464.x — OMIA Phene_Article / Article\n- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article\n- 2016. Brachycephaly: an issue for cats as well as dogs. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article\n- 2021. Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol — PubMed:PMID34409262 | DOI:10.1093/iob/obab023 — OMIA Phene_Article / Article\n- 2021. Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One — PubMed:PMID33630878 | DOI:10.1371/journal.pone.0247092 — OMIA Phene_Article / Article\n- 2023. Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article\n- 2023. Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats. Animals (Basel) — PubMed:PMID36830403 | DOI:10.3390/ani13040614 — OMIA Phene_Article / Article\n- 2023. Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds. Anat Histol Embryol — PubMed:PMID36793158 | DOI:10.1111/ahe.12909 — OMIA Phene_Article / Article\n- 2023. Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats. Vet Surg — PubMed:PMID36882053 | DOI:10.1111/vsu.13948 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. Links this animal disorder to its human OMIM entry for comparative/translational context.\n- OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\n## Evidence (references)\nDerived 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.\n- 2016. Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID26956354 | DOI:10.1007/s00335-016-9623-1 — OMIA Phene_Article / Article\n- 2016. Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID27007993 | DOI:10.1007/s00335-016-9626-y — OMIA Phene_Article / Article\n- 2010. [Brachycephaly in dog and cat: a \"human induced\" obstruction of the upper airways]. Pneumologie — PubMed:PMID20632241 | DOI:10.1055/s-0030-1255513 — OMIA Phene_Article / Article\n- 2003. The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol — PubMed:PMID12919073 | DOI:10.1046/j.1439-0264.2003.00464.x — OMIA Phene_Article / Article\n- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article\n- 2016. Brachycephaly: an issue for cats as well as dogs. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article\n- 2021. Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol — PubMed:PMID34409262 | DOI:10.1093/iob/obab023 — OMIA Phene_Article / Article\n- 2021. Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One — PubMed:PMID33630878 | DOI:10.1371/journal.pone.0247092 — OMIA Phene_Article / Article\n- 2023. Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article\n- 2023. Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats. Animals (Basel) — PubMed:PMID36830403 | DOI:10.3390/ani13040614 — OMIA Phene_Article / Article\n- 2023. Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds. Anat Histol Embryol — PubMed:PMID36793158 | DOI:10.1111/ahe.12909 — OMIA Phene_Article / Article\n- 2023. Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats. Vet Surg — PubMed:PMID36882053 | DOI:10.1111/vsu.13948 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 2016. Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID26956354 | DOI:10.1007/s00335-016-9623-1 — OMIA Phene_Article / Article\n- 2016. Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID27007993 | DOI:10.1007/s00335-016-9626-y — OMIA Phene_Article / Article\n- 2010. [Brachycephaly in dog and cat: a \"human induced\" obstruction of the upper airways]. Pneumologie — PubMed:PMID20632241 | DOI:10.1055/s-0030-1255513 — OMIA Phene_Article / Article\n- 2003. The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol — PubMed:PMID12919073 | DOI:10.1046/j.1439-0264.2003.00464.x — OMIA Phene_Article / Article\n- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article\n- 2016. Brachycephaly: an issue for cats as well as dogs. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article\n- 2021. Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol — PubMed:PMID34409262 | DOI:10.1093/iob/obab023 — OMIA Phene_Article / Article\n- 2021. Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One — PubMed:PMID33630878 | DOI:10.1371/journal.pone.0247092 — OMIA Phene_Article / Article\n- 2023. Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article\n- 2023. Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats. Animals (Basel) — PubMed:PMID36830403 | DOI:10.3390/ani13040614 — OMIA Phene_Article / Article\n- 2023. Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds. Anat Histol Embryol — PubMed:PMID36793158 | DOI:10.1111/ahe.12909 — OMIA Phene_Article / Article\n- 2023. Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats. Vet Surg — PubMed:PMID36882053 | DOI:10.1111/vsu.13948 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n## Evidence (references)\nDerived 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.\n- 2016. Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID26956354 | DOI:10.1007/s00335-016-9623-1 — OMIA Phene_Article / Article\n- 2016. Erratum to: Evidence of selection signatures that shape the Persian cat breed. Mamm Genome — PubMed:PMID27007993 | DOI:10.1007/s00335-016-9626-y — OMIA Phene_Article / Article\n- 2010. [Brachycephaly in dog and cat: a \"human induced\" obstruction of the upper airways]. Pneumologie — PubMed:PMID20632241 | DOI:10.1055/s-0030-1255513 — OMIA Phene_Article / Article\n- 2003. The course of the nasolacrimal duct in brachycephalic cats. Anat Histol Embryol — PubMed:PMID12919073 | DOI:10.1046/j.1439-0264.2003.00464.x — OMIA Phene_Article / Article\n- 2016. Aristaless-Like Homeobox protein 1 (ALX1) variant associated with craniofacial structure and frontonasal dysplasia in Burmese cats. Dev Biol — PubMed:PMID26610632 | DOI:10.1016/j.ydbio.2015.11.015 — OMIA Phene_Article / Article\n- 2016. Brachycephaly: an issue for cats as well as dogs. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article\n- 2021. Exceptional changes in skeletal anatomy under domestication: The case of brachycephaly. Integr Org Biol — PubMed:PMID34409262 | DOI:10.1093/iob/obab023 — OMIA Phene_Article / Article\n- 2021. Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array. PLoS One — PubMed:PMID33630878 | DOI:10.1371/journal.pone.0247092 — OMIA Phene_Article / Article\n- 2023. Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article\n- 2023. Examination of shape variation of the skull in British Shorthair, Scottish Fold, and Van cats. Animals (Basel) — PubMed:PMID36830403 | DOI:10.3390/ani13040614 — OMIA Phene_Article / Article\n- 2023. Radiographic analysis of skull in Van Cats, British Shorthairs and Scottish Folds. Anat Histol Embryol — PubMed:PMID36793158 | DOI:10.1111/ahe.12909 — OMIA Phene_Article / Article\n- 2023. Ala vestibuloplasty improves cardiopulmonary and activity-related parameters in brachycephalic cats. Vet Surg — PubMed:PMID36882053 | DOI:10.1111/vsu.13948 — OMIA Phene_Article / Article\n- (7 additional references in OMIA)\n\n## Comparative medicine (human OMIM)\nDerived 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.\n- OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)\n- OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)\nverification_derived:\n  method: derived_from_dataset\n  source: \"OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM\"\n  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.\"\n","sources":["companion-breed-health — Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)"],"source":{"authority":"companion-breed-health","title":"Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)","url":"https://pubmed.ncbi.nlm.nih.gov/26956354/","retrieved":"","ref":"PMID 26956354","doc_type":"official source","source_document":"","verification_file":""},"source_document":"","source_file":"","trust":{"authority_tier":"ungraded","fidelity":"verbatim","license":null,"display_grade":"pending"},"tokens_estimated":3034,"generated_at":null,"tip":"Use /api/v1/topics to discover more topics. /api/v1/nutrient for precise single-point queries. /api/v1/cross_compare for 2-3 standard comparisons."}