has material basis in germline mutation in RUNX2 syndromic disease metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://rarediseases.info.nih.gov/diseases/3568/metaphyseal-dysplasia-maxillary-hypoplasia-brachydactyly https://www.malacards.org/card/metaphyseal_dysplasia_maxillary_hypoplasia_brachydacty_syndrome https://www.malacards.org/card/metaphyseal_dysplasia_with_maxillary_hypoplasia_with_or_without_brachydactyly MDMHB UMLS:C3549874 GARD:0003568 DOID:0111513 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait. metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly metaphyseal dysplasia maxillary hypoplasia brachydactyly OMIM:156510 MEDGEN:762788 MONDO:0007984 Orphanet:2504 skeletal dysplasia