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GTR Home > Conditions/Phenotypes > Spondyloepiphyseal dysplasia with congenital joint dislocations

Spondyloepiphyseal dysplasia with congenital joint dislocations

Synonyms
CHST3-Related Skeletal Dysplasia; Humero-spinal dysostosis with congenital heart disease; Humerospinal Dysostosis; Kozlowski Celermajer Tink syndrome; Spondyloepiphyseal Dysplasia, Omani Type
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk develop in childhood. Minor heart valve dysplasia has been described in several persons. Intellect and vision are normal. [from GeneReviews]

Available tests

27 tests are in the database for this condition.

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Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C6ST, C6ST1, HSD, CHST3
    Summary: carbohydrate sulfotransferase 3

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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