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Cleft Palate

General

Disease Name
Cleft Palate
OMIA
1919
Gene Name
DLX6
Mutation
cfa14.25016716ins2056bp L1
OMIM
261800
Test Type
Genetic Disease/Disorder
Details
A cleft palate is an abnormal opening in the roof of the mouth. It is the result of failure of the two sides of the palate (roof of the mouth) to come together and fuse during embryonic development. A cleft palate results in an opening between the nasal passages and the mouth. Symptoms expected with a cleft palate include: runny nose, coughing, aspiration pneumonia (pneumonia caused by milk and food contents entering the cleft and infecting the lungs), respiratory difficulty (caused by aspiration pneumonia), difficulty sucking and nursing (for puppies), slow growth, weight loss, lack of appetite. Cleft palates can be inherited, and also have non-inherited causes, such as environmental effects - i.e. vitamin deficencies.
Details 2
Cleft lip (often referred to incorrectly as a ?hair lip? or more appropriately as palatoschisis or congenital oronasal fistula) and cleft palate are birth defects that occur when a puppy's lip or mouth do not form properly during pregnancy. Symptoms with a cleft palate can include: runny nose, coughing, aspiration pneumonia, respiratory difficulty (caused by aspiration pneumonia), difficulty sucking and nursing, slow growth, weight loss, lack of appetite. Cleft palates can be inherited, and also have non-inherited causes, such as environmental effects.
Published
Wolf, Z.T., Leslie, E.J., Arzi, B., Jayashankar, K., Karmi, N., Jia, Z., Rowland, D.J., Young, A., Safra, N., Sliskovic, S., Murray, J.C., Wade, C.M., Bannasch, D.L. : A LINE-1 Insertion in DLX6 Is Responsible for Cleft Palate and Mandibular Abnormalities in a Canine Model of Pierre Robin Sequence. PLoS Genet 10:e1004257, 2014. Pubmed reference: 24699068. DOI: 10.1371/journal.pgen.1004257.
Published 2
Peralta, S., Fiani, N., Kan-Rohrer, K.H., Verstraete, F.J.M. : Morphological evaluation of clefts of the lip, palate, or both in dogs. Am J Vet Res 78:926-933, 2017. Pubmed reference: 28738009. DOI: 10.2460/ajvr.78.8.926.
Body/System/Process
Anatomic
Inheritance
ADIP/AD risk
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