Oral-Facial-Digital Syndrome

Orofaciodigital syndromes (OFDS) are rare hereditary conditions caused by disorders of primary cilia. Clinical manifestations comprise facial (hypertelorism, low-set ears), oral cavity (lingual hamartoma, abnormal frenulum, lobulated tongue), and digital abnormalities (polydactyly, brachydactyly) associated with a wide spectrum of additional features. In 1954, Papillon-Leage and Psaume described a syndrome that involved malformation of the face, oral cavity, and digits. Morton and Jordan (1935), Mohr (1941), and Gorlin and Psaume (1962) reported cases of children with similar malformations. According to the aforementioned authors, the first observation of this syndrome dates back to 1883. Today, OFDS is classified as a distinct subgroup of ciliopathies, which involves at least 16 causal genes. The different subtypes show a wide variety and overlap of clinical symptoms. The incidence is 1 in 50,000 live births, and it is observed in approximately 1.5:1000 patients with cleft lip, cleft palate, or both. In this chapter, the pathogenesis, clinical manifestations, classification, and management of OFDS are reviewed.