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GTR Home > Conditions/Phenotypes > Klippel-Feil syndrome 2, autosomal recessive

Klippel-Feil syndrome 2, autosomal recessive

Synonyms
CERVICAL VERTEBRAL FUSION, AUTOSOMAL RECESSIVE; KFS, AUTOSOMAL RECESSIVE; KLIPPEL-FEIL SYNDROME 2; Klippel Feil syndrome autosomal recessive

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). Clarke et al. (1998) proposed a classification system for KFS in which an autosomal recessive form is characterized by the most rostral fusion at C1 and the presence of severe associated anomalies, including short neck, cardiac defects, and craniofacial anomalies. For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (118100). [from OMIM]

Available tests

21 tests are in the database for this condition.

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Clinical tests (21 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KFS2, MOX1, MEOX1
    Summary: mesenchyme homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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