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H803

Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine.

Working days 10

Specifiche

Breeds

,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

Informazioni generali

Spondylocostal Dysostosis (Comma Defect) is a severe skeletal growth disorder that results in a shortened body and an abnormal ribs and spine. This variant of the disorder, also called Comma Defect due to the abnormal body shape it causes in affected puppies, occurs in the Standard Schnauzer and Miniature Schnauzer. Comma Defect is lethal, resulting in stillbirth or death shortly after the puppy’s birth. It is caused by a recessive mutation to the gene HES7.

Caratteristiche cliniche

Affected puppies are stillborn or die within hours of birth. They have a reduced body length with disproportionately small hindquarters – described as a comma-like body shape – and may present with additional symptoms such as umbilical hernias or cleft palate.

Informazioni aggiuntive

Riferimenti

Pubmed ID: 25659135

Omia ID: 1944

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