The Many Faces of Oral-Facial-Digital Syndrome

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The Many Faces of Oral-Facial-Digital Syndrome

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.

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  • Mohr OL. A hereditary subletal syndrome in man. Nor Vidensk Akad Oslo I mat Naturv Klasse. 1941; 14: 3-18.

  • Fenton OM Watt-Smith SR. The spectrum of oralfacial-digital syndrome. Br J Plast Surg. 1985; 38(4): 532-539.

  • Toriello HV. Oral-facial-digital syndromes. Clin Dysmorphol. 1993; 2(2): 95-105.

  • Toriello HV. Are the oral-facial-digital syndromes ciliopathies? Am J Med Genet A. 2009; 149(5): 1089-1095.

  • Moran-Barroso V Valdes Flores M Garcia-Cavazos R Kofman-Alfaro S Saavedra-Ontiveros D. Oral-facial-digital (OFD) syndrome with associated features: a new syndrome or genetic heterogeneity and variability? Clin Dysmorphol. 1998; 7(1): 55-57.

  • Gabrielli O Ficcadenti A Fabrizzi G Perri P Mercuri A Coppa GV Giorgi P. Child with oral facial digital and skeletal anomalies and psychomotor delay: a new OFDS form? Am J Med Genet. 1994; 53(3): 290-293.

  • Degner D Bleich S Riegel A Rüther E. [Orofacial-digital syndrome - a new variant? Psychiatric neurologic and neuroradiological findings.] Fortschr Neurol Psychiatr. 1999; 67(12): 525-528.

  • Feather SA Woolf AS Donnai D Malcolm S Winter RM. The oral-facial-digital syndrome type 1 (OFD1) a cause of polycystic kidney disease and associated malformations maps to Xp22.2-Xp22.3. Hum Molec Genet. 1997; 6(7): 1163-1167.

  • Thauvin-Rabinet C Cossee M Cormier-Daire V Van Maldergem L Toutain A Alembik Y Bieth E Layet V Parent P David A Goldenberg A Mortier G Heron D Sagot P Bouvier AM Huet F Cusin V Donzel A Devys D Teyssier JR Faivre L. Clinical molecular and geno-type-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet. 2006; 43(1): 54-61.

  • Macca M Franco B. The molecular basis of oral-facial-digital syndrome type 1. Am J Med Genet C Semin Med Genet. 2009; 151C(4): 318-325.

  • Neri G Gurrieri F Genuardi M. Oral-facial-skeletal syndromes. Am J Med Genet. 1995; 59(3): 365-368.

  • Digilio MC Marino B Giannotti A Dallapiccolla B. Orocardiodigital syndrome: an oral-facial-digital type II variant associated with atrioventricular canal. J Med Genet. 1996; 33(5): 416-418.

  • Verloes A. Numerical syndromology: a mathematical approach to the nosology of complex phenotypes. Am J Med Genet. 1995; 55(4): 433-43.

  • Fransceshini P Guala A Vardeu MP Signorile F Franceschini D Bolgiani MP. Short-rib dysplsia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum. Am J Med Genet. 1995; 59(3): 359-364.

  • Baraitser M. A female infant with features of Mohr and Majevski syndromes: variable expression a genetic compound or distinct entity? J Med Genet. 1983; 20(1): 65-67.

  • Camera G Marasini M Pozzolo S Camera A. Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndromes in a fetus. Am J Med Genet. 1994; 53(2): 196-198.

  • Chitayat D Stalker HJ Azouz EM. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II III IV and VI: a new OFD syndrome? Am J Med Genet. 1992; 44(5): 567-572.

  • Levy EP Fletcher BD Fraser FC. Mohr syndrome with subclinical expression of the bifid great toe. Am J Dis Child. 1974; 128(4): 531-533.

  • Hsieh YC Hou JW. Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect. Am J Med Genet 1999; 86(3): 278-281.

  • Münke M McDonald DM Cronister A Stewart JM Gorlin RJ Zackai EH. Oral-facial-digital syndrome type VI (Váradi syndrome): further clinical delineation. Am J Med Genet. 1990; 35(3): 360-369.

  • Al-Qattan MM Hassanain JMA. Classification of limb anomalies in oral-facial-digital syndromes. J Hand Surg B. 1997; 22(2): 250-252.

  • Odent S Le Marec B Toutain A David A Vigneron J Tréguier C Jouan H Milon J Fryns JP Verloes A. Central nervous system malformations and early endstage renal disease in oro-facio-digital syndrome type I: a review. Am J Med Genet. 1998; 75(4): 389-94.

  • Poretti A Huisman TA Scheer I Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol. 2011; 32(8): 1459-1463.

  • Hall JG Pallister PD Clarren SK Beckwith JB Wiglesworth FW Fraser FC Cho S Benke PJ Reed SD. Congenital hypothalamic hamartoblastoma hypopituitarism imperforate anus and postaxial polydactyly - a new syndrome? Part I: clinical causal and pathogenetic considerations. Am J Med Genet. 1980; 7(1): 47-74.

  • Opitz JM Penchaszadeh VB Holt M C Spano LM. Smith-Lemli-Opitz (RSH) syndrome bibliography. Am J Med Genet. 1987; 28(3): 745-750.

  • Verloes A Ayme S Gambarelli D Gonzales M Le Merrer M Mulliez N Philip N Roume J. Holo-prosencephaly-polydactyly (‘pseudotrisomy 13’) syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet 1991; 28(5): 297-303.

  • Toriello HV Carey J Suslak E Desposito F Leonard B Lipson M Friedman B Hoyme E. Six patients with oral-facial-digital syndorme IV: the case for heterogeneity. Am J Med Genet. 1997; 69(3): 250-260.

  • Annerén G Gustavson KH Jozwiak S Kjartansson S Strömberg B. Abnormalities of the cerebellum in oro-facio-digital syndrome II (Mohr syndrome). Clin Genet (Copenhagen). 1990; 38(1): 69-73.

  • Ades LC Clapton WK Morphett A Morris LL Haan EA. Polydactyly campomelia ambiguous genitalia cystic dysplastic kidneys and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome or a severe form of oral-facial-digital syndrome type IV. Am J Med Genet. 1994; 49(2): 211-217.

  • Meinecke P Hayek H. Orofaciodigital syndrome type IV (Mohr-Majewski syndrome) with severe expression expanding the known spectrum of anomalies. J Med Genet. 1990; 27(3): 200-202.

  • Toriello HV Lemire E. Optic nerve coloboma Dandy-Walker malformation microglossia tongue hamartomata cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant? Clin Dysmorphol. 2002; 11(1): 19-23.

  • Yildrim S Akan M Deviren A Akoz T. Penile agenesis and clavicular anomaly in a child with oral facial digital syndrome. Clin Dysmorphol. 2002; 11(1): 29-32.

  • Balci S Guler G Kale G Soylemezoglu F Besim A. Mohr syndrome in two sisters: prenatal diagnosis in a 22-week-old fetus with post-mortem findings in both. Prenat Diag. 1999; 19(9): 827-831.

  • Iaccarino M Lonardo F Giugliano M Della Bruna MD. Prenatal diagnosis of Mohr syndrome by ultrasonography. Prenat Diagn. 1985; 5(6): 415-418.

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