orofaciodigital syndrome XI (DOID:0060381)
Alliance: disease page
Alt IDs: OMIM:612913, MESH:C557821, ORDO:141000, UMLS_CUI:C2752048
Definition: An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects.