Term Name:	acrofacial dysostosis Cincinnati type
Synonyms:
Definition:	An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11.
Ontology:	Human Disease [DOID:0060353]   ( DOID:0060353 )