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Cleft Lip / Palate and Syndactyly (CLPS) is a facial birth defect in which the upper lip develops with a gap, or cleft, extending up towards the nose.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 27 |
| Mutation | c.1360_1361delAA |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | CL/P; CLPS |
Informations générales
Cleft Lip / Palate and Syndactyly (CLPS) is a facial birth defect in which the upper lip develops with a gap, or cleft, extending up towards the nose. In the case of Cleft Palate, this gap also extends inwards along the roof of the mouth (palate), possibly leading to an opening between the mouth and nasal cavity. In the Nova Scotia Duck Tolling Retriever, a recessive mutation to the gene ADAMTS20 has been found to cause CLPS.
Caractéristiques cliniques
Affected puppies are born with a cleft upper lip, which may also include a cleft palate. This may result in abnormally-positioned and poorly-developed teeth and upper lip, and in the case of a cleft palate, difficulty suckling and swallowing, as well as a high susceptibility to infections of the nose and mouth. A cleft palate results in extremely poor quality of life, and requires intensive surgery to repair.
Additionally, affected puppies may show complete or incomplete syndactyly (fusion of toes on the paw).
Additional Information
This mutation is one of two known to cause cleft lip in the Nova Scotia Duck Tolling Retriever.
Références
Pubmed ID: 25798845
Year published: 2015
Omia ID: 1140
Omia variant ID: 537