Disease relevance of Blepharophimosis

• Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome [1]?
• In contrast, other known causes of POF, such as blepharophimosis ptosis epicanthus and inversus and autosomal recessive gonadal dysgenesis, had no altered sex ratio [2].
• Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23-->pter) characterized by low birth weight, growth retardation, microcephaly, and blepharophimosis, blepharoptosis, microstomia, and abnormal ears [3].
• Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation [4].
• Clinical manifestations which differentiate their condition from Nager syndrome include: microcephaly, cleft lip and palate, a peculiar beaked nose, blepharophimosis, microtia, symmetrical involvement of the thumbs, and great toes and developmental delay [5].

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

• This deletion affects the transcription of at least two genes: PISRT1, encoding a 1.5-kb mRNA devoid of open reading frame (ORF), and FOXL2, recently shown to be responsible for blepharophimosis ptosis epicanthus inversus syndrome (BPES) in humans [16].
• Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) [17].
• The patient was small for gestational age and had a multiple congenital anomalies (MCA) syndrome including microcephaly; unusual facial appearance with bilateral microphthalmia, blepharophimosis, and ptosis; ventricular septal defect; and bilateral clubfeet [18].

Anatomical context of Blepharophimosis

• Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis [19].

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].

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