Lippen-Kiefer-Gaumenspalte und Syndaktylie (CLPS)
Cleft lip/palate and syndactyly (CLPS)
General description
Affected puppies are born with cleft palate and cleft lips, as well as fusion of the middle toes, which is called syndactyly. Two different genetic defetcs were found to be the cause of this disease.
Breeds
Nova Scotia Duck Tolling Retriever
Order details
| Test number | 8326 |
| Abbreviation | CLPS |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | skeletal |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ADAMTS20 |
| Mutation | DEL |
| Literature | OMIA:001140-9615 |
Detailed description
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. \n\nCLPS 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. \n
