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GTR Home > Conditions/Phenotypes > Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

Synonyms
METAPHYSEAL DYSPLASIA AND MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY; Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly (MDMHB) is an autosomal dominant bone dysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth (summary by Moffatt et al., 2013). [from OMIM]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 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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