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GTR Home > Conditions/Phenotypes > Fibrous dysplasia of jaw

Fibrous dysplasia of jaw

Synonyms
Cherubism
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Cherubism
Cherubism is a childhood-onset, autoinflammatory bone disease characterized by bilateral and symmetric proliferative fibroosseous lesions limited to the mandible and maxilla. The enlargement is usually symmetric in nature. The phenotype ranges from no clinical manifestations to severe mandibular and maxillary overgrowth with respiratory, vision, speech, and swallowing problems. In most affected persons, teeth are displaced, unerupted, unformed, or absent, or may appear to be floating in cystlike spaces; malocclusion, premature exfoliation of deciduous teeth, and root resorption have also been reported. The course and duration of the active process of bone destruction varies between affected individuals; the onset is usually in early childhood, and typically new lesions can occur until puberty. Regression of the lesions occurs as they become filled with bone and remodel during the second and third decade of life. By age 30 years, the facial abnormalities associated with cherubism are not usually recognizable and residual deformity of the jaws is rare. Typically, cherubism is an isolated benign condition; the affected person has normal intellectual skills and is without other physical anomalies.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Peter Kannu
Berivan Baskin
Sarah Bowdin
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Available tests

26 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: 3BP-2, 3BP2, CRBM, CRPM, RES4-23, SH3BP2
    Summary: SH3 domain binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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