Ostetricia

Sindrome oro-facio-digitale tipo 1 (OFD1) OMIM 311200

Sindrome oro-facio-digitale tipo 1 (OFD1)  OMIM 311200


La sindrome oro-facio-digitale tipo 1 è una rara malattia caratterizzata da anomalie che interessano vari distretti. Si trasmette con carattere dominante legato all'X: si manifesta prevalentemente nelle femmine in quanto nei maschi è in genere letale. E' causata da mutazioni del gene OFD1 che mappa in Xp22; la penetranza è elevata ma l'espressione estremamente variabile. 

Le anomalie potenzialmente riscontrabili in epoca prenatale sono:
  • Anomalie cranio-facciali: ipertelorismo,labiopalatoschisi, micrognazia;
  • Anomalie scheletriche: brachidattilia, sindattilia, polidattilia, clinodattilia del V dito;
  • Anomalie del SNC: agenesia cerebellare, agenesia del corpo calloso;
  • Anomalie renali: rene policistico.
Prognosi

I feti di sesso maschile muoiono in genere nel 1°- 2° trimestre di gravidanza. La prognosi delle femmine affette è estremamente variabile e legata alla ampia gamma di anomalie associate.

Bibliografia
Anneren, G., Arvidson, B., Gustavson, K.-H., Jorulf, H., Carlsson, G. Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin. Genet. 26: 178-186, 1984. [
Chetty-John, S., Piwnica-Worms, K., Bryant, J., Bernardini, I., Fischer, R. E., Heller, T., Gahl, W. A., Gunay-Aygun, M. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). Am. J. Med. Genet. 152A: 2640-2645, 2010.
Connacher, A. A., Forsyth, C. C., Stewart, W. K. Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum. J. Med. Genet. 24: 116-122, 1987.
Doege, T. C., Thuline, H. C., Priest, J. H., Norby, D. E., Bryant, J. S. Studies of a family with the oral-facial-digital syndrome. New Eng. J. Med. 271: 1073-1080, 1964. [
Donnai, D., Kerzin-Storrar, L., Harris, R. Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease. J. Med. Genet. 24: 84-87, 1987.
Feather, S. A., Winyard, P. J. D., Dodd, S., Woolf, A. S. Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred. Nephrol. Dial. Transplant 12: 1354-1361, 1997.
Feather, S. A., Woolf, A. S., Donnai, D., Malcolm, S., Winter, R. M. 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. 6: 1163-1167, 1997.
Ferrante, M. I., Giorgio, G., Feather, S. A., Bulfone, A., Wright, V., Ghiani, M., Selicorni, A., Gammaro, L., Scolari, F., Woolf, A. S., Sylvie, O., Le Marec, B., Malcolm, S., Winter, R., Ballabio, A., Franco, B. Identification of the gene for oral-facial-digital type I syndrome. Am. J. Hum. Genet. 68: 569-576, 2001.
Gedeon, A. K., Oley, C., Nelson, J., Turner, G., Mulley, J. C. Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85. (Letter) Am. J. Med. Genet. 82: 352-354, 1999.
Goodship, J., Platt, J., Smith, R., Burn, J. A male with type I orofaciodigital syndrome. J. Med. Genet. 28: 691-694, 1991.
Gorlin, R. J., Anderson, V. E., Scott, C. R. Hypertrophied frenuli, oligophrenia, familial trembling and anomalies of the hand: report of four cases in one family and a forme fruste in another. New Eng. J. Med. 264: 486-489, 1961.
Gurrieri, F., Franco, B., Toriello, H., Neri, G. Oral-facial-digital syndromes: review and diagnostic guidelines. Am. J. Med. Genet. 143A: 3314-3323, 2007.
Lipp, M. J., Lubit, E. C. The oral-facial-digital syndrome: case report of a mother and daughter. Cleft Palate J. 27: 311-316, 1990.
Salinas, C. F., Pai, G. S., Vera, C. L., Milutinovic, J., Hagerty, R., Cooper, J. D., Cagna, D. R. Variability of expression of the orofaciodigital syndrome type I in black females: six cases. Am. J. Med. Genet. 38: 574-582, 1991.
 Toriello, H. V. Are the oral-facial-digital syndromes ciliopathies? Am. J. Med. Genet. 149A: 1089-1095, 2009.
Towfighi, J., Berlin, C. M., Jr., Ladda, R. L., Frauenhoffer, E. E., Lehman, R. A. W. Neuropathology of oral-facial-digital syndromes. Arch. Path. Lab. Med. 109: 642-646, 1985.
Townes, P. L., Wood, B. P., McDonald, J. V. Further heterogeneity of the oral-facial-digital syndromes. Am. J. Dis. Child. 130: 548-554, 1976. 


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