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Canine Mendelian disease record

Bald Thigh Syndrome (Discovered in Sighthounds)

Bald Thigh Syndrome (Discovered in Sighthounds). Autosomal recessive. Observed in 32 of 211 breeds tested in the Sniff Atlas, with measured carrier frequencies drawn from 12,296 dogs (Donner 2023). Per-dog phenotype outcome depends on penetrance, modifiers, and environment; the carrier frequencies below describe variant prevalence, not disease incidence.

OMIA identifier
OMIA:002168-9615
Inheritance
Autosomal recessive
Source dataset
Sniff Atlas v1.0.1 / DOI
Carrier frequency by breed

Top 12 well-sampled breeds (n ≥ 50)

Maximum carrier frequency per breed across variants in the Donner 2023 cohort, with Wilson 95% confidence intervals. The list below is split into well-sampled breeds (n ≥ 50 tested) and small-sample breeds (n < 50, where the Wilson CI typically spans more than 20 percentage points and frequencies should not be compared directly to the well-sampled entries). Frequencies are population-level, not per-litter or per-line.

Breed Carrier frequency n tested
Whippet 73.7% 59
Dutch Shepherd Dog 6.6% 61
Bichon Frise 3.8% 52
Russell Terrier 3.7% 123
Pomeranian 2.1% 121
Belgian Malinois 2.0% 266
Lhasa Apso 2.0% 61
Shih Tzu 2.0% 85
Chihuahua 2.0% 143
Kromfohrlander 2.0% 172
Staffordshire Bull Terrier 2.0% 412
Border Collie 2.0% 2,115
▸ Also observed in 20 small-sample breeds (n < 50)

Frequencies in this section are statistical estimates with wide Wilson 95% confidence intervals (typically >20 percentage points). Treat these as "carriers observed but the true population frequency is not yet measurable" rather than as comparable to the well-sampled entries above.

Breed Estimate n tested
Borzoi 100.0% 24
Greyhound 93.3% 30
Italian Greyhound 90.9% 11
Scottish Deerhound 83.3% 12
Saluki 73.5% 17
Sloughi 50.0% 1
Papillon 33.3% 3
Cirneco Del Etna 25.0% 6
Afghan Hound 22.2% 9
Lancashire Heeler 21.9% 16
Flat Coated Retriever 18.8% 8
Biewer Terrier 14.3% 7
Continental Toy Spaniel 14.3% 7
Russian Tsvetnaya Bolonka 12.5% 12
Belgian Sheepdog 8.3% 24
Maltese 8.3% 12
Curly Coated Retriever 7.1% 7
Azawakh 3.8% 13
Rhodesian Ridgeback 3.6% 28
Schipperke 2.0% 34

179 additional breeds in the Donner 2023 cohort were tested but showed no carriers.

Scope of this record

Scope

This record carries the breed-level carrier frequencies from the Donner 2023 cohort. Penetrance data (the fraction of at-risk dogs that develop the phenotype) is not yet quantified for this disease in the Sniff Atlas v1.0.1. The OMIA entry is the authoritative reference for the clinical phenotype, inheritance pattern, and gene assignment.

Predicted disease relevance at the per-dog level is UNPROVEN. Carrier frequency is measured; phenotype outcome depends on penetrance, environment, and modifier loci. Consult a veterinarian for clinical interpretation.

How to cite this record

Citations

If you use this record in published work, cite the Sniff Atlas (the published dataset that carries the breed-level carrier frequencies) and the upstream sources:

Full citation formats (BibTeX, RIS, CITATION.cff) at sniff.world/cite.

Related

Related

Last updated
Sources: Sniff Atlas v1.0.1 · OMIA OMIA:002168-9615 · Donner et al. 2023