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GTR Home > Conditions/Phenotypes > Worth disease

Worth disease

Synonyms
Endosteal hyperostosis, Worth type; Endosteal hyperostosis, autosomal dominant; Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus; Osteosclerosis autosomal dominant Worth type; Osteosclerosis, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003). [from OMIM]

Available tests

49 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (49 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP-7, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2, LRP5
    Summary: LDL receptor related protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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