Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_exotic_shorthair_omia3818_cat category: companion-breed-health title: "Exotic Shorthair — Brachycephaly (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/exotic_shorthair_omia3818_3818.txt date_parsed: 2026-08-02 tokens_estimated: 315 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_exotic_shorthair_omia3818_cat/01_companion_breed_health_exotic_shorthair_omia3818_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: "Exotic Shorthair — Brachycephaly (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001551/9685/" 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

Exotic Shorthair — Brachycephaly (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: Exotic Shorthair (Cat)
Disorder:
Mode of inheritance: Multifactorial
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].
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.
Defect: yes

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

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
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
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
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
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
2016. Brachycephaly: an issue for cats as well as dogs.. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article
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
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
2023. Flat-faced or non-flat-faced cats? That is the question.. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article
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
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
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
(7 additional references in OMIA)

Comparative medicine (human OMIM)

Derived 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.

OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose.

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
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
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
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
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
2016. Brachycephaly: an issue for cats as well as dogs. Vet Rec — PubMed:PMID27738208 | DOI:10.1136/vr.i5507 — OMIA Phene_Article / Article
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
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
2023. Flat-faced or non-flat-faced cats? That is the question. Animals (Basel) — PubMed:PMID36670746 | DOI:10.3390/ani13020206 — OMIA Phene_Article / Article
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
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
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
(7 additional references in OMIA)

Comparative medicine (human OMIM)

Derived 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.

OMIM:112263 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:607223 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
OMIM:125400 (type: trait) — OMIA Group_OMIM (via OMIA_ID)