Search Term: Cleft Lip with or without Cleft Palate
Breeds
Relevance Rating: There is some evidence or research available in this breed
Disease Name
Cleft Lip with or without Cleft Palate
OMIA
1140
Gene Name
ADAMTS20
Mutation
c.1360_1361delAA
OMIM
610361
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., Brand, H.A., Shaffer, J.R., Leslie, E.J., Arzi, B., Willet, C.E., Cox, T.C., McHenry, T., Narayan, N., Feingold, E., Wang, X., Sliskovic, S., Karmi, N., Safra, N., Sanchez, C., Deleyiannis, F.W., Murray, J.C., Wade, C.M., Marazita, M.L., Bannasch, D.L. : Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate. PLoS Genet 11:e1005059, 2015. Pubmed reference: 25798845. DOI: 10.1371/journal.pgen.1005059.
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
OMIA Url
Inheritance
AR
Gene Name Text
ADAM metallopeptidase with thrombospondin type 1 motif, 20
Researched Breeds
Nova Scotia Duck Tolling Retriever
GTPs
Toronto, Ontario
CA
CA
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
St. Kilda, Victoria
AU
AU
Davis, California
US
US
Veterinary Genetics Laboratory
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation
Vancouver, Washington
US
US