British Shorthair — Complex skeletal dysplasia (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_british_shorthair_complex_skeletal_dysplasia_cat category: companion-breed-health title: "British Shorthair — Complex skeletal dysplasia (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/british_shorthair_complex_skeletal_dysplasia_4817.txt date_parsed: 2026-08-02 tokens_estimated: 901 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_british_shorthair_complex_skeletal_dysplasia_cat/01_companion_breed_health_british_shorthair_complex_skeletal_dysplasia_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: "British Shorthair — Complex skeletal dysplasia (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002485/9685/" 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

British Shorthair — Complex skeletal dysplasia (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: British Shorthair (Cat)
• Disorder: Complex skeletal dysplasia
• Mode of inheritance: Autosomal recessive
• Summary: In addition to the skeletal changes, LTBP3-related skeletal dysplasia is characterized by secondary neurological defects due to malformation of the vertebrae and compression of the spinal cord.
• Clin feat: Two British Shorthair littermates, one male and one female, with deteriorating paraparesis and their unaffected parents were investigated. The litter consisted of two affected and three non-affected kittens. The breeder noticed first signs of hind limb paraparesis in the affected kittens at 8 weeks of age. At 10 weeks of age, a clinical and neurological examination demonstrated lordosis and scoliosis, T3-L3 myelopathy and reduced motility of the intestine. Both kittens showed ambulatory paraparesis. Hematology and cerebrospinal fluid analyses were inconspicuous. Radiography demonstrated severe vertebral column deformations and marked coprostasis. Due to the severity of the clinical signs, the kittens were euthanized. (Rudd Garces et al., 2021).
• Defect: yes
• Pathology: The post mortem examination of the male affected kitten by CT and MRI confirmed the deformation of multiple thoracic vertebral bodies. From T11 to L3, there was moderate to marked stenosis of the vertebral canal (lateral narrowing) as well as secondary compression of the spinal cord tissue, which could have led to the T3-L3 myelopathy. The MRI images also revealed an ascending and descending dilation of the central canal of the spinal cord (hydromyelia) and cerebellar herniation. At necropsy, the multiple skeletal malformations with shortened legs, deviations of the spine and flattening of the occiput with narrowing of the caudal cranial fossa were corroborated. Parts of the caudal cerebellum and vermis were irreversibly dislocated into the foramen magnum with prominent indented deformation. The thoracic vertebral column showed a mild dorsal bend (kyphosis) with a following, moderate, ventral deformation (lordosis) and a minor lateral deviation (scoliosis) accompanied by a focal stenosis of the spinal canal at T11–12. The ventral cortical laminar bone showed an increased density and thickening up to 1 mm and the woven bone of the vertebral body was irregularly arranged. The ventral cortical laminar bone of the vertebral bodies showed an increased density and thickening up to 1 mm and the woven bone of the vertebral body and femur was irregularly arranged. Except for the compression of the caudal cerebellum, the histopathological examination of the brain was unremarkable. The compression of the thoracic spinal cord was associated with myelin damage accentuated in the dorso-lateral funiculi but also seen in the ventral aspects with dilation of myelin sheaths, axonal swelling (spheroid formation) and degeneration. The coprostasis was caused by annular constrictions of the colon and rectum with distention of anterior aspects. The constricted areas of the intestine showed a marked hypertrophy of the muscle layer with loss of neurons in the submucosal (Meissner) and myenteric (Auerbach) plexus (hypoganglionosis). The thickening of the intestinal wall was accompanied by proliferation of vascularized fibrous connective tissue (granulation tissue) in the submucosa, between the muscle layers as well as the subserosa. Despite the loss of neurons, there was an excessive proliferation of nerve fibers interwoven into the granulation tissue and crossing the muscular layers. (Rudd Garces et al., 2021).

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 389726389 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Rudd Garces et al. (2021) "investigated a highly inbred family of British Shorthair cats in which two offspring were affected by deteriorating paraparesis due to complex skeletal malformations. ... The pedigree suggested monogenic autosomal recessive inheritance of the trait." The authors "sequenced the genome of an affected kitten and compared the data to 62 control genomes. This search yielded 5…

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.

• 2021. LTBP3 frameshift variant in British Shorthair cats with complex skeletal dysplasia. Genes (Basel) — PubMed:PMID34946872 | DOI:10.3390/genes12121923 — OMIA Phene_Article / Article

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:602090 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:601216 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:617809 (type: trait) — 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."