metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome

Term ID

DOID:0111513

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. (2)

References

• GARD:3568
• OMIM:156510
• ORDO:2504

Ontology

Human Disease   ( DOID:0111513 )