Term Name:	metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
Synonyms:	metaphyseal dysplasia maxillary hypoplasia brachydactyly, metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
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.
Ontology:	Human Disease [DOID:0111513]   ( DOID:0111513 )