acrofacial dysostosis Rodriguez type (DOID:0060383)
Alliance: disease page
Synonyms: acrofacial dysostosis, syndrome of Rodriguez
Alt IDs: OMIM:201170, MESH:C538183, ORDO:1788, UMLS_CUI:C1860119
Definition: An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance.