Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013).
Genetic Heterogeneity of Otofaciocervical Syndrome
OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11. [from
OMIM]