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GTR Home > Conditions/Phenotypes > Craniodiaphyseal dysplasia, autosomal dominant

Craniodiaphyseal dysplasia, autosomal dominant

Summary

Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011). [from OMIM]

Available tests

19 tests are in the database for this condition.

Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDD, DAND6, SOST1, VBCH, SOST
    Summary: sclerostin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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