Otocephaly, also referred to as agnathia-otocephaly complex, is an extremely rare lethal anomalad characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. The etiologic causes of otocephaly can be distinctly classified as a consequence of genetic and teratogenic factors. Recently, molecular genetic studies led to the identification of a loss of function genetic mutation in the PRRX1 gene. Teratogenic factors include smoking, alcohol usage, or even an exposure to radiation can increase the risk. In addition, other chemicals/drugs like streptonigrin antibiotics, trypan blue, theophylline, beclomethasone, salicylates, amidopyrine, mycophenolate, and phenytoin may increase the risk among pregnancies.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the ear
LA23 Otocephaly
H02118 Agnathia-otocephaly complex
