In other species: taurine cattle

Categories: Craniofacial phene

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

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

Clinical features: A cleft lip is a type of orofacial cleft that can manifest as a facial deformity due to incomplete fusion of the lip, incisive bone and/or the alveolar process (Pankowski et al., 2018) Cleft palates are orofacial clefts that involve a midline defect of the hard and/or soft palate, resulting in a hole between the oral and nasal cavity (Pankowski et al., 2018). These clefts occur during embryonic development as a result of incomplete fusion of oral or facial tissues (Roman et al., 2019). Cleft lips and palates are generally recognised in neonatal puppies via visual examination or observation of sneezing, coughing, gagging or drainage of milk from the nostrils during feeding (Roman et al., 2019). Cleft palates generally have far more clinical significance than cleft lips. While most cleft lips only present cosmetic issues, large cleft lips and cleft palates present severe feeding issues in puppies and can lead to failure to grow, chronic sinus infections and aspiration pneumonia (Roman et al., 2019).

IT thanks DVM student Mathilda Harrop, who provided the basis of this contribution in May 2023.

Breeds: Boxer (Dog) (VBO_0200210), Pyrenean Mountain Dog (Dog) (VBO_0201113), Staffordshire Bull Terrier (Dog) (VBO_0201296).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below