Cleft lip/palate and syndactyly (CLPS)

LABOKLIN Service ID: 8326

Cleft lip/palate and syndactyly (CLPS) describes a hereditary disease in Nova Scotia Duck Tolling Retrievers. Two different genetic defects were found to be the cause of this disease: One variant is located in the gene CP1, another variant is located in the gene ADAMTS20, which is responsible for similar symptoms in humans. Both variants are inherited in an autosomal recessive manner.
CLPS is a birth defect whereby affected puppies show a hole (cleft) in the roof of the mouth (palate). Because of this abnormality, puppies can experience difficulty nursing and have an increased risk of developing aspiration pneumonia, since milk can enter the lung. Some affected puppies also have shortened mandibles (mandibular brachygnathia). In the case of the ADAMTS20 variant, a pathological growth along the middle toes, which is called syndactyly, can be another symptom of the disease.

Method	FLP (CP1) and TaqMan SNP assay, if necessary sequencing (ADAMTS20)
Breed list	Nova Scotia Duck Tolling Retriever
Heredity	autosomal recessive
Duration	1 - 2 weeks after arrival of the sample in the lab