A Novel Mutation in the OFD 1 Gene in A Filipino Child with Oral Facial Digital Syndrome Type 1
Oral facial digital syndromes (OFD) are regarded as a heterogeneous group of developmental disorders which clinically overlap with each other. Among the different types of OFD, type I is most highly specific. This condition occurs almost exclusively in females and is sporadic in the majority of cases. We report on a female infant with the typical clinical manifestations of oral-facial-digital syndrome type 1 (OFD 1). The patient displayed the most characteristic and striking features of OFD : frontal bossing, dry and sparse scalp hair, facial milia, hypoplastic alae nasi, oral frenula and clefts, bifid tongue with nodules and digital asymmetry. The diagnosis was further established by molecular genetic testing of the OFD 1 gene which revealed a 1040 C to T transition producing a nonsense de novo mutation on exon 14.