Term Name:	orofaciodigital syndrome XVIII
Synonyms:	Oral-facial-digital syndrome type 18, Oral-facial-digital syndrome with short stature and brachymesophalangy, Orofaciodigital syndrome type 18
Definition:	An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13.
Ontology:	Human Disease [DOID:0060961]   ( DOID:0060961 )