Balkan Journal of Medical Genetics

THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME
Sukarova-Angelovska E, Angelkova N, Palcevska-Kocevska S, Kocova M
*Corresponding Author: Assistant Profesor Elena Sukarova-Angelovska, Pediatric Clinic, Faculty of Medicine, Vodnjanska 17, 1000 Skopje, Republic of Macedonia; Tel.: +389-70-358582; Fax: +389-2- 243301; E-mail: ESukarova@doctor.com
page: 37

INTRODUCTION

The fi rst description of the oral-facial-digital (OFD) syndrome was published six decades ago [1]. Since then, signifi cant heterogeneity and variability have been reported [2,3]. The spectrum of anomalies includes variations in fi ndings in the oral cavity: cleft palate/uvula, multiple frenulae, tongue nodules and hamartomas; in the face: hypertelorism, cleft lip, alar hypoplasia, bulbous nose and digital fi ndings; and in hands and feet: pre/postaxial polydactyly, syndactyly, and brachydactyly. The severity of the any of these features is not correlated with that of other features or with the degree of mental retardation. Anomalies of brain, eye, heart, kidney, genitalia have been described, of which some are specifi cally connected with specifi c subtypes of the syndrome. So far, 13 subtypes have been described according to the mode of inheritance and the involvement of the other organs and systems (eye, brain, tibia, skeletal changes, and presence of millia) [4]. However, classifi cation into the subtypes is not always easy or clear, and additional subgroups have been proposed [5-7]. Only OFD syndrome type 1, which represents only a small portion of all OFD syndromes, has an established genetic defect so far [8,9]. This subtype is characterized by an X-linked dominant mode of inheritance with mutations in the OFD1 gene. With 23 coding regions, this gene has a crucial role in the biology of primary cilia, however, point mutations and deletions, mostly on exons 3, 8, 9 and 13, are described. It has been shown that tongue hamartomas are more consistent with the mutation of the OFD1 gene, than with other subtypes of OFD where no mutation of this gene was found [10]. We here describe four unrelated patients with different types of OFD syndrome. This report again points out the diffi culty in prompt delineation and proper diagnosis of the OFD syndromes. Overlapping features between subtypes of OFD syndrome in each patient are discussed in details.

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