Oral-facial-digital syndrome type I: surgical approach and a case report

Purpose: Oral-facial-digital (OFD) syndromes constitute a heterogeneous group of embrionary development disorders. There are at least 11 different forms, with a broad spectrum of clinical features, causing an important problem with the diagnosis. There are only a few reports in the recent literature, and there is no surgical technique described for its correction.

Materials and methods: We present a newborn female referred to the Cleft Lip and Palate Division of our hospital with facial dysmorphology; her mother was affected by an incomplete form of this syndrome. Genetic investigation showed a mutation not reported before in the literature. We present the clinical features and a new surgical approach for its correction.

Results: OFD syndrome type I (OFD I) is characterised by several clinical features, including incomplete central upper lip cleft, bifid tongue, intraoral hamartomas, upper lip frenula and soft palate cleft. With this technique, we get a good aesthetic result.

Conclusion: OFD I is extremely infrequent and it is important to differentiate it from other forms of OFD. We want to emphasise the importance of performing a correct differential diagnosis in patients affected by palate cleft who have intraoral masses or feeding problems, to rule out incomplete forms of this syndrome. Surgical correction of the malformations associated with this syndrome is a challenge for the paediatric surgeon, because none of the previously reported techniques approach the reparation of this central labial defect.