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]

In total, seven family members were recruited in the present study, including four affected and three unaffected members. [spandidos-publications.com]

Therefore, the possibility of BPES must be borne in mind in any patient presenting with POF and associated characteristic eye features. [asean-endocrinejournal.org]

• Inguinal Hernia

  Krieble and Bixler (1984) reported on a boy and his father, both presenting blepharophimosis, epicanthus, ear anomalies, cleft palate, minor hand/foot anomalies, and inguinal hernia. [scielo.br]

  He had a small umbilical hernia, bilateral hydrocele with reducible right inguinal hernia, coronal hypospadias with mild chordee, generalized cutis marmorata, and mild metatarsus adductus. [healio.com]

• Fishing

  This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. [moh-it.pure.elsevier.com]

• Short Legs

  Iliac hypoplasia, short legs and hypospadias. [accessanesthesiology.mhmedical.com]

• Depressed Nasal Bridge

  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]

• Cesarean Section

  Delivery was at term by cesarean section. Neuropsychological development was normal. [scielo.br]

  He was delivered by cesarean section at 34 weeks gestation because of evidence of intrauterine growth retardation and for maternal preeclampsia. Birth weight was 1520 g (less than the third percentile). [healio.com]

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

• Lymphocytic Infiltrate

  Dermoscopic examination showed yellow dots and exclamatory mark hairs in the periphery and scalp biopsy revealed peribulbar lymphocytic infiltrate [Figure 1]. [ijtrichology.com]

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]

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]

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]

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]

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]

Etiology In 85% of cases, BPES is caused by an intragenic mutation (80%), gene deletion (10-12%), deletion of regulatory elements outside of the FOXL2 gene (3q23)( FOXL2 locus. [orpha.net]

(Etiology) Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2 is caused by mutations in the FOXL2 gene The condition is inherited in an autosomal dominant manner Autosomal dominant: Autosomal dominant conditions are traits or disorders [dovemed.com]

Ptosis may have multiple etiologies, including idiopathic, myogenic (including congenital myopathies, congenital myasthenia and myotonic dystrophy), aponeurotic, neurogenic (including congenital third nerve palsy, congenital facial palsy, congenital Horner [pediatricneurosciences.com]

Symptomatic treatment is surgical. [1] Epidemiology [ edit ] BPES is very rare: only 50-100 cases have been described. It affects slightly more males than females. [1] References [ edit ] External links [ edit ] [en.wikipedia.org]

Summary Epidemiology BPES is a rare condition; the worldwide birth prevalence of BPES is unknown and can be estimated to be less than 1/50,000. [orpha.net]

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]

[…] 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]

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]

described families affected with POF and eye features of BPES. [8], [9], [10] The genetic pathophysiology of BPES is due to a FOXL2 gene mutation which is responsible for BPES type I and II, which is located on the long arm of chromosome 3 (3q23). [asean-endocrinejournal.org]

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]

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]

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]

We found that the mutation disrupted the function of FOXL2 as a transcription factor and prevented its binding to the StAR promoter, causing it to fail to down-regulate the expression of StAR. [ijbs.com]