Oral-Facial-Digital Syndrome Type 1: A Case Report and Review

Oral-facial-digital syndrome type 1 (OFD1), first described by Papillon-Léage in 1954, is transmitted as an X-linked dominant condition and is characterized by a combination of malformations in the face, oral cavity, and digits. Malformations of the brain and polycystic kidney disease are also commonly associated with OFD1. An 11-month-old female presented with multiple tiny whitish papules on her face that had been present since birth. The histopathologic examination was consistent with milium. She also had congenital anomalies, including incomplete cleft palate, bifid tongue, short frenulum, anomalous deformities of both toes, and clino-brachy-syndactyly. Based on the characteristic dysmorphic features of her face, mouth, and hands, a clinical diagnosis of OFD1 was made. Herein, we report a rare case of OFD1 featuring congenital milia, which has not been previously reported in the Korean literature.