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GTR Home > Conditions/Phenotypes > Cleidocranial dysostosis

Cleidocranial dysostosis

Synonyms
CLEIDOCRANIAL DYSPLASIA 1; Cleidocranial Dysplasia; Marie-Sainton disease
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Cleidocranial Dysplasia Spectrum Disorder
Cleidocranial dysplasia (CCD) spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD (triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities), to mild CCD, to isolated dental anomalies without other skeletal features. Individuals with classic CCD spectrum disorder typically have abnormally large, wide-open fontanelles at birth that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs. Dental anomalies may include delayed eruption of secondary dentition, failure to shed the primary teeth, and supernumerary teeth. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper airway obstruction. Intelligence is typically normal.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Keren Machol
Roberto Mendoza-Londono
Brendan Lee
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Available tests

51 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (51 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AML3, CBF-alpha-1, CBFA1, CCD, CCD1, CLCD, OSF-2, OSF2, PEA2aA, PEBP2aA, RUNX2
    Summary: RUNX family transcription factor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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