This paper reports on a 36-year-old woman with GAPO syndrome, a rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P), and optic atrophy (O). Her parents are consanguineous and one of her sisters is also affected. Since the first description by Anderson and Pindborg in 1947, 27 individuals have been reported with this diagnosis. They were from at least 19 different families (four of them from Brazil, including the present one), suggesting a founder effect. The phenotype of this condition, initially considered as the result of an ectodermal dysplasia, could be attributed to the accumulation of extracellular connective tissue matrix and its progressive character must be pointed out. The clinical findings, especially ophthalmological features that include bilateral glaucoma, are reviewed and discussed. Copyright © Taylor and Francis Inc.263143147Online Mendelian Inheritance in Man (OMIM), , http://www.ncbi.nlm.nih.gov/Omim/, for GAPO syndrome [MIM 230740]Sandgren, G., GAPO syndrome: A new case (1995) Am J Med Genet, 58, pp. 87-90Epps, D.R., Mendonça, B.B., Olazabal, L.C., Aec, B., Wajntal, A., Poiquilodermia congênita familiar (1977) Cienc Cult, 29 (SUPPL.), p. 740Wajntal, A., Mendonça, B.B., Epps-Quaglia, D., GAPO syndrome (McKusick 23074) - A connective tissue disorder: Report of two affected sibs and on the pathologic findings in the older (1990) Am J Med Genet, 37, pp. 213-223Da Silva, E.O., Dwarfism, alopecia, pseudoanodontia and other anomalies. Report of a case (1984) Braz J Genet, 7, pp. 743-747Gagliardi, A.R.T., Gonzalez, C.H., Pratesi, R., GAPO syndrome: Report of three affected brothers (1984) Am J Med Genet, 19, pp. 217-223Tipton, R.E., Gorlin, R.J., Growth retardation, alopecia, pseudoanodontia, and optic atrophy - The GAPO syndrome (1984) Am J Med Genet, 19, pp. 209-216Manouvrier-Hanu, S., Largilliere, C., Benalioua, M., Farriaux, J.P., Fontaine, G., Brief clinical report: The GAPO syndrome (1987) Am J Med Genet, 26, pp. 683-688Russell, L.J., Hascall, V.C., Imai, Y., DiGiovanna, J., Gahl, W.A., Marini, J.C., The GAPO syndrome: A disorder of glycosaminoglycan metabolism (1992) Am J Hum Genet, 51 (SUPPL.), pp. A107Sayli, B.S., Gül, D., GAPO syndrome in three relatives in a Turkish kindred (1993) Am J Med Genet, 65, pp. 342-345Phadke, S.R., Haldhar, A., Sharma, A.K., Pande, R., Bhatia, V., GAPO syndrome in a child without dermal hyaline deposit (1994) Am J Med Genet, 51, pp. 193-194Moriya, N., Mitsui, T., Shibata, T., Yamaguchi, K., Kanazawa, C., Matsunaga, A., Hayasaka, K., GAPO syndrome: Report on the first case in Japan (1995) Am J Med Genet, 58, pp. 257-261Sayli, B.S., G̈li, D., GAPO syndrome in Türkiye (1996) Am J Med Genet, 65, pp. 252-253Meguid, N.A., Afifi, H.H., Ramzy, M.I., Hindawy, A., Tentamy, S.A., GAPO syndrome: First Egyptian case with ultrastructural changes in the gingiva (1997) Clin Genet, 52, pp. 110-115Mullaney, P.B., Jacquemin, C., Al-Rashed, W., Smith, W., Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma (1997) Arch Ophthalmol, 115, pp. 940-941Bacon, W., Hall, R.K., Roset, J.P., Boukari, A., Tenenbaum, H., Walter, B., GAPO syndrome: A new case of this rare syndrome and review of the relative importance of different phenotypic features in diagnosis (1999) J Craniofac Genet Dev Biol, 19, pp. 189-200Goucha, S., Fazaa, B., Ezzine, N., Jabber, K., Elandoloussi, H., Abid, R., Kamoun, M.R., Le syndrome GAPO (2000) Ann Dermatol Venereol, 127, pp. 501-504Ilker, S.S., Östürk, F., Kurt, E., Temel, M., Gül, D., Sayli, B.S., Ophthalmic findings in GAPO syndrome (1999) Jpn J Ophthalmol, 43 (1), pp. 48-52Orbak, Z., Orbak, R., Ozkan, R., Okten, A., GAPO syndrome: First patients with partially empty sella (2002) J Pediatr Endocinol Metab, 15, pp. 865-868Anderson, T.H., Pindborg, J.J., Et tilfaelde at total "pseudoanodonti" i forbindelse med kranie deformitet, dvaergvaekst og ektodermal dysplasi (1947) Odontol Tilster, 55, pp. 484-493Fuks, A., Resenman, A., Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: A new syndrome (1978) J Dent Child, 45, pp. 155-157Shapira, Y., Yatziv, S., Deckenbaum, R., Growth retardation, alopecia, pseudoanodontia and optic atrophy (1982) Syndrome Identification (Case Report 85), 8 (1), pp. 14-16Dellac, M., Manouvrier-Hanu, S., Rouland, J.F., Ophthalmological anomalies of the GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). Apropos of a case (1990) J Fr Ophthalmol, 13 (11-12), pp. 547-550