OMIA:002239-9615 : Facial dysmorphia in Canis lupus familiaris (dog)

Categories: Craniofacial phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 303600 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: no

Species-specific name: lethal brachycephalic-like facial dysmorphia

Inheritance: Dierks et al. (2017): "Pedigree analysis supported an X-linked recessive mode of inheritance."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Clinical features: Dierks et al. (2017): "Seven male Labrador retriever puppies from four different litters were identified with a brachycephalic-like face and skull, associated with low birth weight, severe growth retardation, and reduced abilities to crawl and suckle, which were not compatible with survival."

Pathology: Dierks et al. (2017): "Excessive doming of the cranium, brachygnathia superior and inferior, and an abnormally opened fontanelle were found in all affected puppies by computed tomography and at post-mortem examination."

Breed: Labrador Retriever (Dog) (VBO_0200800).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002239-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2020 Vasiliadis, D., Dierks, C., Hoffmann, H., Hellige, M., Hewicker-Trautwein, M., Metzger, J., Distl, O. :
Genome-wide association analysis for lethal brachycephalic-like facial dysmorphia in Labrador Retrievers. Anim Genet 51:122-126, 2020. Pubmed reference: 31691328. DOI: 10.1111/age.12875.
2017 Dierks, C., Hoffmann, H., Heinrich, F., Hellige, M., Hewicker-Trautwein, M., Distl, O. :
Suspected X-linked facial dysmorphia and growth retardation in related Labrador retriever puppies. Vet J 220:48-50, 2017. Pubmed reference: 28190494. DOI: 10.1016/j.tvjl.2017.01.004.

Edit History

  • Created by Frank Nicholas on 31 Jan 2020
  • Changed by Frank Nicholas on 31 Jan 2020
  • Changed by Imke Tammen2 on 21 May 2022