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GTR Home > Conditions/Phenotypes > Cleidocranial dysplasia 2

Cleidocranial dysplasia 2

Summary

Cleidocranial dysplasia-2 (CLCD2) is characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Skull abnormalities such as delayed closure of fontanels have been reported; other skeletal features include delayed bone age, short distal phalanges, and pseudoepiphyses of the metacarpals and/or metatarsals. Phenotypic variability, including intrafamilial, has been observed (Beyltjens et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of cleidocranial dysplasia, see CLCD1 (119600). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CLCD2, PEBP2B, CBFB
    Summary: core-binding factor subunit beta

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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