Term Name: | orofaciodigital syndrome XI |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060381] ( DOID:0060381 ) |