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Craniotubular dysplasia, Ikegawa type

Summary

Craniotubular dysplasia, Ikegawa type (CTDI) is characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead. Radiography shows hyperostosis of the calvaria and skull base, with metadiaphyseal undermodeling of the long tubular bones and mild shortening and diaphyseal broadening of the short tubular bones. Affected individuals experience progressive vision loss in the first decade of life due to optic nerve compression, and deafness may develop in the second decade of life (Guo et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CTDI, NET4, TMEM53
    Summary: transmembrane protein 53

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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