While not always pathological, it can present as a birth defect in multiple syndromes including: * Catel–Manzke syndrome * Bloom syndrome * Coffin–Lowry syndrome * Congenital rubella syndrome * Cri du chat syndrome * DiGeorge syndrome * Ehlers–Danlos syndrome * Fetal alcohol syndrome * Hallermann–Streiff syndrome * Hemifacial microsomia (as part of Goldenhar syndrome) * Incontinentia pigmenti * Juvenile idiopathic arthritis * Marfan syndrome * Möbius syndrome * Noonan syndrome * Pierre Robin syndrome * Prader–Willi syndrome * Progeria * Silver–Russell syndrome * Seckel syndrome * Smith–Lemli–Opitz syndrome * Treacher Collins syndrome * Trisomy 13 (Patau syndrome) * Trisomy 18 (Edwards syndrome) * Trisomy 21 (Down syndrome) * Wolf–Hirschhorn syndrome * X0 syndrome (Turner syndrome)
Micrognathism
Retrognathism
Hypodontia
Macrognathism
Maxillary hypoplasia
Loxoscelism
Anodontia
Hemifacial microsomia