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GTR Home > Conditions/Phenotypes > Klippel-Feil syndrome 3, autosomal dominant

Klippel-Feil syndrome 3, autosomal dominant

Summary

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KFS3, MCOP7, MCOPCB6, GDF3
    Summary: growth differentiation factor 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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