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Skeletal Dysplasia 3 (SD3)

Skeletal Dysplasia 3 (SD3)

Disproportionate dwarfism, Osteochondrodysplasia

Skeletal Dysplasia 3 (SD3), also known as disproportionate dwarfism, is an inherited condition that results in a type of abnormal bone growth and development known as skeletal dysplasia. Dogs born with this condition will exhibit shortened limbs with normal head and body size. Affected dogs will be significantly shorter than unaffected dogs with the most noticeable shortening evident in the upper arm and leg bones. Thickened wrists are also particularly noticeable in younger dogs. Individuals affected by this disease tend to live normal healthy lives with typical life spans.

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These dogs have two copies of the normal gene and will neither develop Skeletal Dysplasia 3 nor pass this mutation to their offspring.


These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Skeletal Dysplasia 3 but will, if bred, pass the mutation to 50% of its offspring, on average.


These dogs have two copies of the mutation associated with this disease and are likely to develop Skeletal Dysplasia 3.

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Additional Details


Autosomal Recessive

Affected gene



Ch. 33


XM_038583131.1: 673T>C


Ludwig-Peisker, O.; Ansel, E.; Schweizer, D.; Jagannathan, V.; Loechel, R.; Leeb, T. PCYT1A Missense Variant in Vizslas with Disproportionate Dwarfism. Genes 2022, 13, 2354. [PubMed: 36553621]