Congenital Cornification Disorder / CHILD-like syndrome (NSDHL-related) - Labrador Retriever

What does this test detect?

This genetic test analyses the NSDHL deletion c.507+220_*9662del, an approximately 14,399 bp gross deletion used in Labrador Retrievers for Congenital Cornification Disorder.

Other names for this condition

The condition is also described as congenital disorder of cornification, Congenital Cornification Disorder, CCD, ILVEN-like skin disease, CHILD-like syndrome or NSDHL-related genodermatosis.

What does this mean for the dog?

NSDHL is involved in cholesterol biosynthesis, a process important for normal skin development. Affected dogs may develop linear, thickened, wart-like and scaly plaques, often in zones or along skin developmental lines. The lesions can be persistent, itchy, painful, malodorous or secondarily infected. Severe paw pad cornification may also make standing and walking difficult.

Inheritance and result

The NSDHL deletion follows X-linked incomplete dominant inheritance. Heterozygous female dogs may show the skin phenotype. Male animals with the variant are generally stillborn or die very early, making the result important for breeding plans.

Practical value of this test

• The test helps Labrador Retriever breeders check the relevant NSDHL deletion in a targeted way.
• The result separates clear, variant-carrying and very unusual strongly variant-positive patterns, supporting selection and risk management.
• In dogs with compatible skin signs, the test provides genetic clarity for a complex skin phenotype that can resemble other dermatological conditions.
• For breeding plans, the result helps reduce risky combinations and unexpected loss of offspring linked to X-linked lethality.