Typically, four major facial features are present at birth: narrow eyes, droopy eyelids, an upward fold of skin of the inner lower eyelids and widely set eyes. [rarediseases.org]

Presentation[edit] In addition to small palpebral fissures, features can include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus. [en.wikipedia.org]

Epicanthus inversus is present and may be mild to severe. A manifest strabismus is seen in 20% of children, mostly esotropia, and 35% have refractive errors enough to warrant corrective lenses. [mussenhealth.us]

A 9-month-old boy presented with characteristic clinical findings of BPES confirmed by genetic testing. [ncbi.nlm.nih.gov]

• Camping

  Baere2000IdentificationOB, title={Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.}, author={Elfride De Baere and Yoshimitsu Fukushima and Kersten Small and Nitin Udar and Guy Van Camp [semanticscholar.org]

  De Baere, E., Fukushima, Y., Small, K., Udar, N., Van Camp, G., Verhoeven, K., Palotie, A., De Paepe, A., Messiaen, L. [wikigenes.org]

  regulatory, type II, beta, mRNA (cDNA clone MGC:87711 IMAGE:30331962), complete cds NM_002736.2 | Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA 16 - GTTAAAGTTGAGAGATCAT |||X||||||||X||X||| GTT T AAGTTGAG T GA [sidirect2.rnai.jp]

  Article CAS Google Scholar Messiaen L, Leroy B, De Bie S, De Pauw K, Van Roy N, Speleman F, Van Camp G, De Paepe A: Refined genetic and physical mapping of BPES type II. Eur J Hum Genet 1996;4: 34–38. [nature.com]

  Hum Mol Genet. 2001; 10 :1591–600. [ PubMed : 11468277 ] De Baere E, Fukushima Y, Small K, Udar N, Van Camp G, Verhoeven K, Palotie A, De Paepe A, Messiaen L. [ncbi.nlm.nih.gov]

• Falling

  Get Pregnant - Cure Infertility Naturally Far too many people struggle to fall pregnant and conceive a child naturally. [mussenhealth.us]

  MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines. [mybiosource.com]

  In ptosis, the upper eyelid falls to a position that is lower than normal. In severe cases of ptosis, the drooping eyelid can cover part or the entire pupil and interfere with vision. [1],[2] Ptosis can affect one eye or both eyes. [pediatricneurosciences.com]

  PTOSIS: Blepharoptosis literally means a falling of the lids. The palpebral fissure is abnormally small in the vertical dimension. [fr.slideshare.net]

  Ptosis: Blepharoptosis literally means a falling of the lids. The palpebral fissure is abnormally small in the vertical dimension. [bpes.org.uk]

• Blepharoptosis

  All the patients had bilateral severe blepharoptosis, epicanthus inversus, and flat dorsum nasi. [ncbi.nlm.nih.gov]

  J Pediatr Neurosci 2012;7:238-9 Dear Sir, A drooping eyelid is called ptosis or blepharoptosis. In ptosis, the upper eyelid falls to a position that is lower than normal. [pediatricneurosciences.com]

  Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus – a syndrome with no name. American Journal of Ophthalmology, 72, 625–632. PubMed CAS Google Scholar Krastinova, D., & Jasinski, M. (2003). [link.springer.com]

  The blepharoptosis repair surgery aims to allow the upper eyelid to elevate better in order to clear the pupil without a chin lift. [nasaos.org]

• Lacrimation

  The first case described in the literature was in a 9-month-old girl who had congenital absence of the lacrimal glands. [ncbi.nlm.nih.gov]

  Article in Ro | MEDLINE | ID: mdl-1811741 The paper presents a family with 28 members belonging to four generations. 12 of them show an association of blepharophimosis --ptosis--dystopia of the inferior lacrimal points and epicanthus. 9 members of the [pesquisa.bvsalud.org]

  Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. Ophthalmology. 2016 Nov 30. [disorders.eyes.arizona.edu]

  ICD-10-CM Codes › H00-H59 Diseases of the eye and adnexa › H00-H05 Disorders of eyelid, lacrimal system and orbit › H02- Other disorders of eyelid › Blepharophimosis unspecified eye, unspecified lid 2016 2017 2018 2019 Billable/Specific Code H02.529 is [icd10data.com]

• Visual Impairment

  However, he did have a visual impairment which was determined to be due to refractive error amblyopia, and his best-corrected vision was 6/36 in both eyes with no further improvement. [cureus.com]

  impairment, and primary ovarian insufficiency. [eyewiki.aao.org]

• Prolapse

  Although neither keratitis nor overcorrection occurred, conjunctiva prolapse was experienced by one patient 10 days after frontalis aponeurosis suspension. [ncbi.nlm.nih.gov]

• Diplopia

  Damage to this nerve leads to conditions such as Strabismus (squint) and later on Diplopia (double vision). Upper eyelid mass (dermoid cyst) – Overgrowth of abnormal, non-cancerous tissues over the eyelids. [oculoplastic-eyelid-orbit-surgery.com]

• Hypertelorism

  The nasal bridge is flat and there is a hypoplastic orbital rim.[1] It may also be associated with lop ears, ectropion and hypertelorism. There are two known types, type 1 and type 2. [en.wikipedia.org]

  We herein report a 12-year-old girl with BPES who had bilateral blepharophimosis, ptosis, hypertelorism, and downslanting palpebral fissures. Mutation analysis revealed the insertion of a cytosine (dup 1036C) within a wild-type run of six cytosines. [ncbi.nlm.nih.gov]

• Nystagmus

  Other examination: there may be strabismus and sometimes nystagmus the condition is autosomal dominant and therefore ask to see family member. However, other members may have had surgery. Look for lid scars in the family members. [mrcophth.com]

  Refractive errors, strabismus, nystagmus, and amblyopia are often associated. Entropion with trichiasis may require surgical attention. [disorders.eyes.arizona.edu]

  Occasional ocular findings include microphthalmos, anophthalmos, microcornea, hypermetropia, divergent strabismus, nystagmus, amblyopia, and trichiasis. [fr.slideshare.net]

  […] morphology 0011481 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Premature ovarian insufficiency Early menopause Premature menopause Premature ovarian failure [ more ] 0008209 5%-29% of people have these symptoms Nystagmus [rarediseases.info.nih.gov]

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

Standard Therapies Treatment Treatment for BPES needs to address both the eyelid malformation and the premature ovarian insufficienty in type I patients. [rarediseases.org]

TREATMENT Treatment is indicated when visual function is threatened or for improved cosmesis. When the ptosis is severe enough to cause amblyopia, repair must be undertaken at an early age. [mussenhealth.us]

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]

Treatment Treatment Options: No effective treatment has been reported. [disorders.eyes.arizona.edu]

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]

In the present study, we identified prognosis related specific lncRNAs, miRNAs and mRNAs of CN-AML from TCGA database. [cancerci.biomedcentral.com]

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

[…] good prognosis in LUSC ( F ). [oncotarget.com]

Blepharophimosis Syndrome INTRODUCTION This is a group of related congenital eyelid deformities with a strong autosomal dominant hereditary etiology although sporadic cases also occur. [mussenhealth.us]

Virginia Facial anomalies / Craniofacial conditions Children's Craniofacial Association World Craniofacial Foundation Craniofacial Anomalies Page, Pediatric Neurology Department, Columbia-Presbyterian Hospital, NY, includes pictorial guide to anatomy and etiology [kumc.edu]

Blepharophimosis-mental retardation syndromes (BMRS) include a group of clinically and etiologically heterogeneous conditions, which can occur as isolated features or as part of distinct disorders displaying multiple congenital anomalies. [ncbi.nlm.nih.gov]

Etiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome. Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (6), pp.1670-1681. ⟨10.1093/hmg/ddu579⟩. ⟨hal-02135859⟩ [hal.archives-ouvertes.fr]

Publié le 1 avr. 2015 Blepharophimosis, Etiologies, types, signs and symptoms, differential diagnosis, management and optometry roles Blepharophimosis 1. [fr.slideshare.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

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

Non-small cell lung cancer: epidemiology, risk factors, treatment, and survivorship. Mayo Clin Proc. 2008; 83:584–94. 2. [oncotarget.com]

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]

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]

[…] concept was recently challenged by demonstrating that, contrary to simple congenital ptosis, there was a significant improvement in levator function after supramaximal levator resections.22 In a subsequent paper, the authors offered new insights into the pathophysiologic [entokey.com]

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]

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]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

These results suggest that following guidance should be effective to prevent aggravation of eyelid dermatitis during the ceder pollination seaseon; 1) When you are exposed to the air containing pollens, the primary prevention is to cleanse off the pollens [ci.nii.ac.jp]

Now, many surgeons suggest correction of ptosis first, even at a very early age, to prevent amblyopia. Soft-tissue medial canthal and lateral canthal surgery can wait until the face is grown. [fr.slideshare.net]

Thus, we suggest correction of ptosis first, even at a very early age for the prevention of amblyopia, followed by correction of telecanthus and small HPFL at an older age. [nature.com]