Disease ID | Source | Name | Description |
614669 | OMIM | Auriculocondylar syndrome 2 (ARCND2) | A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. The disease is caused by variants affecting the gene represented in this entry. |