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Disease relevance of Blepharophimosis


Psychiatry related information on Blepharophimosis

  • A 2-year-old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dysplastic auricles, and retrognathia, is presented [6].

High impact information on Blepharophimosis

  • The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome [7].
  • Blepharophimosis syndrome (BPES), an autosomal dominant syndrome in which an eyelid malformation is associated (type I) or not (type II) with premature ovarian failure (POF), has recently been ascribed to mutations in FOXL2, a putative forkhead transcription factor gene [8].
  • Based upon the expression pattern of its mouse cognate, OG12X represents a candidate for the blepharophimosis (BPES) and Cornelia de Lange syndromes previously mapped to this region [9].
  • Blepharophimosis syndrome (BPES) is an autosomal dominant disorder of craniofacial development, the features of which are small palpebral fissures (blepharophimosis), drooping eyelids (ptosis) and a skin fold arising from the lower eyelid (epicanthus inversus) [10].
  • A case of blepharophimosis, ptosis, and epicanthus inversus (BPES) associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23), is reported [11].

Chemical compound and disease context of Blepharophimosis

  • We conclude that the FOXL2 mutation 904_939dup36 may account not only for blepharophimosis and ptosis but also for ovarian dysfunction and growth of the large corpus luteum cyst [12].
  • METHODS: A 26-year-old woman with blepharophimosis syndrome and menstrual abnormality had increased serum luteinizing hormone and serum follicle-stimulating hormone levels [13].
  • A custom-designed, titanium medial canthal tendon screw (MCTS) was used successfully to correct telecanthus in three patients--two with blepharophimosis syndrome and one with congenital telecanthus [14].
  • A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid [15].

Biological context of Blepharophimosis


Anatomical context of Blepharophimosis


Gene context of Blepharophimosis

  • The polled intersex syndrome (PIS) in goats, which shares some features with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) in humans, exemplifies such syndromes [20].
  • Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene [21].
  • The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus, blepharophimosis, a flat nasal bridge with a small nose and a small mouth [22].
  • We report on a girl with the blepharophimosis sequence (BPES), microcephaly of postnatal onset, mild developmental retardation, and a deletion: 46,XX,del(3) (q22.2q23) de novo [23].
  • The reported cases of in utero exposure to cyclosposphamide shared the following manifestations with our patient: growth deficiency, developmental delay, craniosynostosis, blepharophimosis, flat nasal bridge, abnormal ears, and distal limb defects including hypoplastic thumbs and oligodactyly [24].


  1. Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome? de Die-Smulders, C.E., Droog, R.P., van Dijk, M., Fryns, J.P. J. Med. Genet. (1993) [Pubmed]
  2. Female sex preponderance for idiopathic familial premature ovarian failure suggests an X chromosome defect: opinion. Davis, C.J., Davison, R.M., Payne, N.N., Rodeck, C.H., Conway, G.S. Hum. Reprod. (2000) [Pubmed]
  3. "Essentially pure" partial trisomy (6)(p23-->pter) in two brothers due to maternal t(6;17)(p23;p13.3). Röthlisberger, B., Kotzot, D., Gnehm, H.E., Schinzel, A. Am. J. Med. Genet. (1999) [Pubmed]
  4. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Happle, R., Daniëls, O., Koopman, R.J. Am. J. Med. Genet. (1993) [Pubmed]
  5. Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. Kennedy, S.J., Teebi, A.S. Am. J. Med. Genet. A (2004) [Pubmed]
  6. A Japanese patient with the Dubowitz syndrome. Kondo, I., Takeda, K., Kuwajima, K., Hirano, T. Clin. Genet. (1987) [Pubmed]
  7. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M.S., Marzella, R., Rocchi, M., Nicolino, M., Lienhardt-Roussie, A., Nivelon, A., Verloes, A., Schlessinger, D., Gasparini, P., Bonneau, D., Cao, A., Pilia, G. Nat. Genet. (2001) [Pubmed]
  8. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. De Baere, E., Beysen, D., Oley, C., Lorenz, B., Cocquet, J., De Sutter, P., Devriendt, K., Dixon, M., Fellous, M., Fryns, J.P., Garza, A., Jonsrud, C., Koivisto, P.A., Krause, A., Leroy, B.P., Meire, F., Plomp, A., Van Maldergem, L., De Paepe, A., Veitia, R., Messiaen, L. Am. J. Hum. Genet. (2003) [Pubmed]
  9. A new human homeobox gene OGI2X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse. Semina, E.V., Reiter, R.S., Murray, J.C. Hum. Mol. Genet. (1998) [Pubmed]
  10. Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies. Lawson, C.T., Toomes, C., Fryer, A., Carette, M.J., Taylor, G.M., Fukushima, Y., Dixon, M.J. Hum. Mol. Genet. (1995) [Pubmed]
  11. Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)). Wolstenholme, J., Brown, J., Masters, K.G., Wright, C., English, C.J. J. Med. Genet. (1994) [Pubmed]
  12. A new heterozygous mutation of the FOXL2 gene is associated with a large ovarian cyst and ovarian dysfunction in an adolescent girl with blepharophimosis/ptosis/epicanthus inversus syndrome. Raile, K., Stobbe, H., Tröbs, R.B., Kiess, W., Pfäffle, R. Eur. J. Endocrinol. (2005) [Pubmed]
  13. Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. Matsuoka, Y., Shibuya, Y. Am. J. Ophthalmol. (1997) [Pubmed]
  14. Treatment of congenital forms of telecanthus with custom-designed titanium medial canthal tendon screws. Mauriello, J.A., Caputo, A.R. Ophthalmic plastic and reconstructive surgery. (1994) [Pubmed]
  15. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: differential role of the polyalanine tract in the development of the ovary and the eyelid. Kosaki, K., Ogata, T., Kosaki, R., Sato, S., Matsuo, N. Ophthalmic Genet. (2002) [Pubmed]
  16. A 11.7-kb deletion triggers intersexuality and polledness in goats. Pailhoux, E., Vigier, B., Chaffaux, S., Servel, N., Taourit, S., Furet, J.P., Fellous, M., Grosclaude, F., Cribiu, E.P., Cotinot, C., Vaiman, D. Nat. Genet. (2001) [Pubmed]
  17. Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Praphanphoj, V., Goodman, B.K., Thomas, G.H., Niel, K.M., Toomes, C., Dixon, M.J., Geraghty, M.T. Genomics (2000) [Pubmed]
  18. Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype. Alvarado, M., Bocian, M., Walker, A.P. Am. J. Med. Genet. (1987) [Pubmed]
  19. Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)? Titomanlio, L., Bennaceur, S., Bremond-Gignac, D., Baumann, C., Dupuy, O., Verloes, A. Am. J. Med. Genet. A (2005) [Pubmed]
  20. Pisrt1, a gene implicated in XX sex reversal, is expressed in gonads of both sexes during mouse development. Loffler, K.A., Combes, A.N., Wilhelm, D., Beverdam, A., Bowles, J., Koopman, P. Mol. Genet. Metab. (2005) [Pubmed]
  21. Cellular Retinol Binding Protein 1 (RBP1): a frequent polymorphism, refined map position and exclusion as the Blepharophimosis Ptosis Epicanthus inversus Syndrome gene. Bisceglia, L., d'Ambrosio, L., Piemontese, M.R., Carella, M., Amati, P., Bonneau, D., Pilia, G., Gasparini, P., Zelante, L. Mol. Cell. Probes (1998) [Pubmed]
  22. Tibial aplasia, lower extremity mirror image polydactyly, brachyphalangy, craniofacial dysmorphism and genital hypoplasia: further delineation and mutational analysis. Wechsler, S.B., Lehoczky, J.A., Hall, J.G., Innis, J.W. Clin. Dysmorphol. (2004) [Pubmed]
  23. Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): a putative gene responsible for microcephaly close to the BPES gene? Ishikiriyama, S., Goto, M. Am. J. Med. Genet. (1993) [Pubmed]
  24. Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype? Enns, G.M., Roeder, E., Chan, R.T., Ali-Khan Catts, Z., Cox, V.A., Golabi, M. Am. J. Med. Genet. (1999) [Pubmed]
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