This girl presented with additional clinical features such as a soft cleft palate and microcephaly; thus, this copy number variant might have other somatic effects. [karger.com]

Case Presentation A 14-year-old male presented to the eye outpatient department (OPD) of Dow University of Health Sciences (DUHS) in Karachi, Pakistan, with complaints of visual impairment due to the inability to fully open the eye (Figure 1) in September [cureus.com]

The signs and symptoms of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 may include the following: Very frequently present symptoms in 80-99% of the cases: Blepharophimosis Depressed nasal bridge Epicanthus Ptosis Frequently present [dovemed.com]

Here, we present the construction of a YAC contig spanning the entire BPES locus using 17 polymorphic markers, 2 STS and 28 ESTs. This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. [moh-it.pure.elsevier.com]

Finally, cleft lip and palate may represent a very low frequency sign within the spectrum of the BPES, or be present in our patients only by chance, especially in family 2 where two half-sibs presented cleft lip/palate. [scielo.br]

• Candidiasis

  Consortium Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy.. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains. Nat Genet, 17 (1997), pp. 399-404 [49.] A. Hoek, J. [elsevier.es]

• Oligomenorrhea

  1Charles Nicolle Hospital, Department of Congenital and Hereditary Diseases, Tunis, Tunisia Introduction Premature ovarian insufficiency (POI) is defined by menstrual disturbance (oligomenorrhea or amenorrhea) before 40 years and confirmed by two FSH [endocrine-abstracts.org]

  While they began menstruating at approximately 14 years old, they each had an irregular menarche cycle, experiencing oligomenorrhea and then amenorrhoea before 38 years of age. [ijbs.com]

A thorough workup revealed the presence of well-formed striated muscle in the most apical part of the levator muscle. [jamanetwork.com]

Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome.[1] Treatment[edit] The main treatment is symptomatic, since the underlying genetic defect cannot be corrected as of 2015. [en.wikipedia.org]

Decisions about use of a new treatment, or about a change in your current treatment plan, should be in consultation with your doctor or other healthcare professional. [healthetreatment.com]

If you have experience dealing with this disease or condition (especially with regard to symptoms, diagnosis, causes or treatment), please share below: [comfortfinders.com]

Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]

Figure 2: The treatment response of alopecia areata -view of the vertex; (a) before starting treatment; (b) after 4 weeks of starting treatment; (c) 18 weeks Click here to view Figure 3: Treatment response: Frontal view (a) after 4 weeks of treatment, [ijtrichology.com]

Prognosis Prognosis is good and patients have a normal lifespan. The documents contained in this web site are presented for information purposes only. [orpha.net]

(Outcomes/Resolutions) The prognosis of Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is good The affected individuals are known to have a normal lifespan Additional and Relevant Useful Information for Blepharophimosis, Ptosis, and [dovemed.com]

Prognosis Good surgical results have been published, with the possibilities of having more than one surgery. American Academy of Ophthalmology. [eyewiki.aao.org]

Diagnosis and Prognosis: The facial appearance is characteristic and suggests the diagnosis. Lifespan seems to be normal. It may be possible to lift the eyelids and improve the facial appearance with surgery. [disorders.eyes.arizona.edu]

Prognosis Majority of children of Asian ancestry lose their folds during and after puberty. Surgical correction is successful in majority of cases of epicanthus. References : Traboulsi Elias I. Genetic Diseases of the Eye. Second Edition. [aimu.us]

Synonyms Blepharophimosis, Epicanthus Inversus, and Ptosis~BPES~Epicanthus Inversus Syndrome, Type II Etiology Please input defination information here. Diagnosis Please input defination information here. [pediascape.org]

Etiology The disorder is caused by an intragenic mutation (80%), gene deletion (10-12%), deletions of regulatory elements outside of the FOXL2 gene (3q23)(<5%), and translocations involving the FOXL2 region. [orpha.net]

Etiology Inherited as autosomal dominant with up-to 50% happened sporadically Pathophysiology BPES types I and II were each mapped on the long arm of chromosome 3, due to mutations within, or influencing FOXL2 gene, Its protein product expressed in lids [eyewiki.aao.org]

Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders of unknown cause. [books.google.de]

Symptomatic treatment is surgical.[1] Epidemiology[edit] BPES is very rare: only 50–100 cases have been described. [en.wikipedia.org]

Summary Epidemiology The worldwide prevalence is unknown. Clinical description A congenital disorder characterized by a complex bilateral eyelid malformation including blepharophimosis, ptosis, epicanthus inversus and telecanthus. [orpha.net]

[…] defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

Neurology and Neurosurgery Czech and Slovak Ophthalmology Czech and Slovak Psychiatry Czech Geriatric Review Czech Gynaecology Czech Rheumatology Czech Dental Journal Czech Urology Czech-Slovak Dermatology Czecho-Slovak Pathology Czech-Slovak Pediatrics Epidemiology [prolekare.cz]

Thus, decreased apoptotic and antiproliferative activities caused by mutant forms of FOXL2 found in BPES patients may at least partially contribute to the pathophysiology of ovarian dysfunction. [jstage.jst.go.jp]

Etiology Inherited as autosomal dominant with up-to 50% happened sporadically Pathophysiology BPES types I and II were each mapped on the long arm of chromosome 3, due to mutations within, or influencing FOXL2 gene, Its protein product expressed in lids [eyewiki.aao.org]

Advances in the molecular pathophysiology, genetics, and treatment of primary ovarian insufficiency. Trends Endocrinol Metab. 2018;29:400–19. [PubMed: 29706485] Kanj RV, Ofei-Tenkorang NA, Altaye M, Gordon CM. [ncbi.nlm.nih.gov]

Two pathophysiological mechanisms are discussed. One suggests an initial process of inhibition of follicular development and an increase in the level of follicular atresia. [elsevier.es]

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 may not be preventable, since it is a genetic disorder. [dovemed.com]

Being aware of the characteristic clinical features of blepharophimosis, ptosis, epicanthus inversus and telecanthus will prevent unnecessary investigations, aid early genetic diagnosis, inform about possible associated features and will guide appropriate [pediatricneurosciences.com]

Effective and timely management of BPES can prevent amblyopia and significantly improve cosmesis. After this surgical procedure, the patient now has relief from adverse psychosocial consequences. [cureus.com]

Cai et al. in China reported a novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q. [2] We conclude that early corrective surgery to prevent the development of amblyopia in blepharophimosis [bijojournal.org]

As glaucoma may manifest only in late childhood or even adulthood, these patients must be closely followed up for glaucoma even after they have been managed for the correction of eyelid abnormalities of BPES in order to prevent irreversible sight-threatening [ijo.in]