Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome: Causes & Reasons

Possible Causes for Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

Synonyms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome BPES blepharophimosis syndrome Subdivisions of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome BPES [rarediseases.org]

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. [ncbi.nlm.nih.gov]

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a malformation of the eyelids. Forkhead Box L2 (FOXL2) is the only gene known to be associated with BPES. [ncbi.nlm.nih.gov]

Bencze Syndrome

syndrome Blepharophimosis-epicanthus inversus-ptosis due to a CNV Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus [rarediseaseghana.org]

50 Cases 1252 Blepharonasofacial malformation syndrome 3 Families 126 Blepharophimosis-epicanthus inversus-ptosis syndrome 2.0 P 293642 Blepharophimosis-intellectual disability [azkurs.org]

[…] esotropia syndactyly short * Blepharophimosis ptosis syndactyly mental retardation * Blepharophimosis syndrome Ohdo type * Blepharophimosis, ptosis, epicanthus inversus * [en.academic.ru]

Blepharophimosis

Associated conditions[edit] Blepharophimosis, ptosis, epicanthus inversus syndrome[edit] Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome [en.wikipedia.org]

Entry H00826 Disease Name Blepharophimosis-ptosis-epicanthus inversus syndrome Description Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal [genome.jp]

Bonnemann-Meinecke-Reich Syndrome

See Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 BPES without premature ovarian failure - See Blepharophimosis, ptosis, and epicanthus inversus syndrome [herenciageneticayenfermedad.blogspot.com]

Platelet-Type Bleeding Disorder 18

[…] exstrophy 3.05 BP 73271 Bleeding diathesis due to a collagen receptor defect 20 Cases 420566 Bleeding disorder due to CalDAG-GEFI deficiency 3 Cases 1997 Blepharo-cheilo-odontic syndrome [azkurs.org]

Oculopalatoskeletal Syndrome

Molecular Genetics Linkage analyses in multiplex families to determine whether oculopalatoskeletal syndrome is allelic to the blepharophimosis, ptosis, and epicanthus inversus [cags.org.ae]

We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, [ncbi.nlm.nih.gov]

syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus,[2][3] highly arched eyebrows, and hypertelorism.[3][4] [en.wikipedia.org]

Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome - How is Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome abbreviated? [acronyms.thefreedictionary.com]

Metro Health Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome National Organization for Rare Disorders, Inc. [metrohealth.net]

blepharophimosis-ptosis-epicanthus inversus syndrome) Click here to view The genetic basis of alopecia areata is still obscure. [ijtrichology.com]

Dyschondrosteosis-Nephritis Syndrome

inversus-ptosis syndrome Bruck syndrome Brugada syndrome Bruton type agammaglobulinemia CADASIL Canavan Disease Carbamoyl-phosphate synthase deficiency Carbonic anhydrase [igenomix.us]

Dystrophy (DMB) - Beckwith-Wiedemann syndrome (CDKN1C) - blepharophimosis - ptosis - epicanthus inversus syndrome (BEPS): FOXL2 gene - BLOOM SYNDROME (BLM) - Bruton tyrosine [laboratoriogenoma.eu]

Exstrophy Complex Blastomycosis Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharospasm, Benign Essential Bloom Syndrome Blue Diaper Syndrome Blue Rubber Bleb [arrayit.com]

Oculo-Osteo-Cutaneous Syndrome

Blepharophimosis syndrome Ohdo type Blepharophimosis with ptosis syndactyly and short stature Blepharophimosis ptosis and epicanthus inversus syndrome type 1 Blepharophimosis [personalizedcause.com]

Blepharophimosis-Epicanthus Inversus-Ptosis Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Blepharoptosis, Myopia, And Ectopia Lentis Blepharoptosis-Myopia-Ectopia [familydiagnosis.com]

[…] syndactyly short Blepharophimosis ptosis syndactyly mental retardation Blepharophimosis syndrome Ohdo type Blepharophimosis, ptosis, epicanthus inversus Blepharophimosis [bioreference.net]

Coloboma of Eyelid

Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Blepharophimosis-epicanthus [se-atlas.de]

A child with the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). [reviewofophthalmology.com]

In the blepharophimosis syndrome, the horizontal palpebral aperture is reduced and this is associated with epicanthus inversus, ptosis, and telecanthus (see Chapter 18 ). [entokey.com]

Pseudo-Zellweger Syndrome

inversus-ptosis syndrome Bruck syndrome Brugada syndrome Bruton type agammaglobulinemia CADASIL Canavan Disease Carbamoyl-phosphate synthase deficiency Carbonic anhydrase [igenomix.us]

[…] altered gene Blepharophimosis, epicanthus inversus, and ptosis Blepharophimosis, epicanthus inversus, and ptosis Pontocerebellar hypoplasia Gangliosidosis Congenital disorder [news-medical.net]

Bartter syndrome Best Macular dystrophy Beta Thalassemia Biotinidase deficiency Biotin-responsive basal ganglia disease Blackfan-Diamond disease Blepharophimosis-epicanthus [igenomix.us]

Hypergonadotropic Hypogonadism-Cataract Syndrome

ptosis, and epicanthus inversus syndrome type 1 (Increased circulating gonadotropin level) Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2 ... ... [familydiagnosis.com]

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001; 27(2):159-166. [endocrine.gr]

Chiari malformation type 2 Limb-girdle muscular dystrophy Wyburn Mason's syndrome Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 Central core disease Fraser [checkrare.com]

Familial Developmental Dysphasia

Blepharophimosis syndrome Ohdo type[?] Blepharophimosis, ptosis, epicanthus inversus[?] Blepharophimosis[?] Blepharoptosis aortic anomaly[?] [encyclopedia.kids.net.au]

Bla–Ble [ edit ] Black piedra Bladder neoplasm Blamronesis Blaichman syndrome Blastoma Blastomycosis Blepharitis Blepharo cheilo dontic syndrome Blepharo facio skeletal syndrome [en.wikipedia.org]

Congenital Non-Progressive Ataxia

inversus-ptosis syndrome Bruck syndrome Brugada syndrome Bruton type agammaglobulinemia CADASIL Canavan Disease Carbamoyl-phosphate synthase deficiency Carbonic anhydrase [igenomix.us]

Exstrophy Complex Blastomycosis Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome Blepharospasm, Benign Essential Bloom Syndrome Blue Diaper Syndrome Blue Rubber Bleb [arrayit.com]

Bartter syndrome Best Macular dystrophy Beta Thalassemia Biotinidase deficiency Biotin-responsive basal ganglia disease Blackfan-Diamond disease Blepharophimosis-epicanthus [igenomix.us]

BOD Syndrome

ptosis, epicanthus inversus BPES blepharophimosis-ptosis- epicanthus inversus syndrome BPF bandpass filter; bradykinin- potentiating factor; Brazilian purpuric fever; bronchopulmonary [passeidireto.com]

ptosis, epicanthus inversus BPES blepharophimosis-ptosis-epicanthus inversus syndrome BPF bandpass filter; bradykinin-potentiating factor; Brazilian purpuric fever; bronchopulmonary [health.am]

Malpuech Syndrome

We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip/palate, [ncbi.nlm.nih.gov]

Abstract We report on a 3-year-old girl with Michels syndrome, a rare condition characterized by craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, cleft lip [scienceon.kisti.re.kr]

Blepharophimosis, ptosis, and epicanthus inversus syndrome (MIM: 110100), caused by mutations in the forkhead transcription factor Foxl2 [Crisponi et al., 2001] is an autosomal [onlinelibrary.wiley.com]

Amaurosis-Hypertrichosis Syndrome

Nervous system disease hsa00830 Retinol metabolism hsa04744 Phototransduction H00826 Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus [kegg.jp]

included) (Blepharophimosis, epicanthus inversus, and ptosis 3, formerly; BPES3, included) 14 101600 Pfeiffer syndrome (Acrocephalosyndactyly, type V; ACS5) (ASC V) (Noack [becomerich.lab.u-ryukyu.ac.jp]

Blepharofacioskeletal Syndrome

[…] syndrome Bixler Christian Gorlin syndrome Bjornstad syndrome Bladder neoplasm Blaichman syndrome Blastoma Blastomycosis Blepharo cheilo dontic syndrome Blepharo facio skeletal syndrome [bioreference.net]

Blepharoptosis aortic anomaly Blepharoptosis cleft palate ectrodactyly dental anomalies Blepharoptosis myopia ectopia lentis Blepharospasm Blethen–Wenick–Hawkins syndrome [en.wikipedia.org]

Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

Fragile X mental retardation syndrome FOXL2 gene Blepharophimosis, ptosis, and epicanthus inversus syndrome, with premature ovarian failure (BPES type I) Blepharophimosis [julesberman.blogspot.com]

heart anomalies, hearing loss, and hypogonadism Branchiooculofacial syndrome ABCD syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) Frontorhiny Klippel-Feil [csirnotes.com]

Premature Ovarian Failure

Blepharophimosis-ptosis-epicanthus inversus syndrome is a rare disorder associated with premature ovarian failure (POF). [ncbi.nlm.nih.gov]

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. [ghr.nlm.nih.gov]

FOXL2 encodes a forkhead transcription factor whose mutations are responsible for the blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), involving craniofacial/palpebral [ncbi.nlm.nih.gov]

Bullous Erythroderma Ichthyosiformes

syndrome, see blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis, ptosis, and epicanthus inversus, see blepharophimosis, ptosis, and epicanthus inversus [elbiruniblogspotcom.blogspot.com]

syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type, see Ohdo syndrome [elbiruniblogspotcom.blogspot.com]

BPES, see blepharophimosis, ptosis, and epicanthus inversus syndrome Brachial Neuralgia, see hereditary neuralgic amyotrophy Brachial Neuritis, see hereditary neuralgic amyotrophy [elbiruniblogspotcom.blogspot.com]

Congenitally Short Costocoracoid Ligament

(SCS) (Acrocephalosyndactyly, type III; ACS3) (ACS III) (Chotzen syndrome) (Acrocephaly, skull asymmetry and mild syndactyly) (Saethre-Chotzen syndrome with eyelid anomalies [becomerich.lab.u-ryukyu.ac.jp]

ACS1) (ACS I) (Apert-Crouzon syndrome, included) (Acrocephalosyndactyly, type II, included) (ACS II, included) (Vogt cephalodactyly, included) 13 101400 Saethre-Chotzen syndrome [becomerich.lab.u-ryukyu.ac.jp]

Female Infertility due to Anovulation

Reproductive and Infertility Genetics Ambiguous Genitalia Androgen Insensitivity Syndrome Bardet-Biedl Syndrome Blepharophimosis-Ptosis-Epicanthus Inversus syndrome (BPES) [preventiongenetics.com]

Axenfeld-Rieger Syndrome

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. [ijo.in]

Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis [ncbi.nlm.nih.gov]

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome 1 Glaucoma and Cornea Services, Dr. [ijo.in]

Kaufman Oculocerebrofacial Syndrome

[…] with Facial and Genital Anomalies and Mental Retardation Blepharophimosis with Ptosis, Syndactyly, and Short Stature blepharophimosis, ptosis, and epicanthus inversus syndrome [rgd.mcw.edu]

Acquired microcephaly in blepharophimosis‐ptosis‐epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion Dean, S. J.; Holden, K. [deepdyve.com]

Acrootoocular Syndrome Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects Blepharophimosis Syndrome Type 1 Blepharophimosis Syndrome Type 2 Blepharophimosis [rgd.mcw.edu]

Bullous Dystrophy Type Macular

ptosis and epicanthus inversus syndrome type 2 Blepharoptosis myopia ectopia lentis Blepharospasm Bloom syndrome Blount disease Blue cone monochromatism Blue diaper syndrome [personalizedcause.com]

Congenital Ptosis

and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, n = 20) cases were studied on a vertical UBM scan using 50-MHz probe. [ncbi.nlm.nih.gov]

Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet. 2008 Mar. 29 (1):37-40. [Medline]. [emedicine.medscape.com]

Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23). Ophthalmic Genet. 2008 Mar. 29 (1):37-40. [emedicine.medscape.com]

Nivelon-Nivelon-Mabille Syndrome

epicanthus inversus - cupped ears Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome - cupped ears Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 1 - cupped [geneticdisorders.info]

Syndrome - creases on earlobe Blepharophimosis, ptosis, epicanthus inversus - cupped ears Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome - cupped ears Blepharophimosis [geneticdisorders.info]

Ptosis, Epicanthus Inversus Syndrome, type 1 - cupped ears Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 - cupped ears BOR syndrome - cupped ears Branchial [geneticdisorders.info]

Axenfeld-Rieger Syndrome Type 3

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome. [ijo.in]

Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome 1 Glaucoma and Cornea Services, Dr. [ijo.in]

ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus [ijo.in]

Young-Simpson Syndrome

There are some other syndromes associated with blepharophimosis which have features that overlap with Young-Simpson Syndrome type and these include blepharophimosis-ptosis-epicanthus [medigoo.com]

There are some other syndromes associated with blepharophimosis which have features that overlap with Ohdo syndrome SBB type and these include blepharophimosis-ptosis-epicanthus [contact.org.uk]

ptosis, epicanthus inversus syndrome 1 AD 2 Blepharophimosis & ptosis Epicanthus inversus (a fold of skin that runs from the lower lids inwards & upwards) LMX1B Nail-patella [ncbi.nlm.nih.gov]