metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome (DOID:0111513)
Alliance: disease page
Synonyms: metaphyseal dysplasia maxillary hypoplasia brachydactyly; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Alt IDs: OMIM:156510, ORDO:2504
Definition: An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1.