Conditions / Other
agnathia-otocephaly complex
info · Other · ICD-10: Q18.2
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified as
A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported.
Signs and symptoms
- Laryngeal hypoplasia
- Mandibular aplasia
- Pulmonary hypoplasia
- Narrow mouth
- Tracheomalacia
- Hypoplasia of the epiglottis
- Polyhydramnios
- Downslanted palpebral fissures
- Cleft palate
- Secundum atrial septal defect
Also known as: agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly