Type VIII oral–facial–digital syndrome. A rare case series of a forgotten syndrome subtype

Summary 

The oral–facial–digital (OFD) syndrome is a constellation of clinical syndromes having similar characteristics like involvement of cleft lip, cleft palate, tongue clefts or hamartomas, hypertelorism and limb abnormalities which include hand, foot malformations, and central abnormalities. OFD type VIII shares a special place in OFDS due to its X linked recessive nature of transmission and very few cases have been reported of this syndrome (only one series by Edward 1988). In view of very limited number of such reports in Otolaryngological literature, we intend to describe this rare case series of type VIII OFDS for recognition among pediatric otolaryngologists so that early diagnosis and intervention can be done. We describe three cases of OFD VIII to highlight their diverse manifestations, diagnostic workup and management issues.

Keywords: Oral–facial–digital syndrome, Type VIII OFDS, Tongue nodule, Polydactyly, Laryngeal hypoplasia