Chromosomes, Human, Pair 3
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Forkhead Transcription Factors
Encyclopedias as Topic
Mental Retardation, X-Linked
Bence Jones Protein
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Molecular Sequence Data
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
Information Seeking Behavior
Medical Record Linkage
Hospital Information Systems
Consumer Health Information
A system for classifying patient care by relating common characteristics such as diagnosis, treatment, and age to an expected consumption of hospital resources and length of stay. Its purpose is to provide a framework for specifying case mix and to reduce hospital costs and reimbursements and it forms the cornerstone of the prospective payment system.
International Classification of Diseases
A system of categories to which morbid entries are assigned according to established criteria. Included is the entire range of conditions in a manageable number of categories, grouped to facilitate mortality reporting. It is produced by the World Health Organization (From ICD-10, p1). The Clinical Modifications, produced by the UNITED STATES DEPT. OF HEALTH AND HUMAN SERVICES, are larger extensions used for morbidity and general epidemiological purposes, primarily in the U.S.
Reproducibility of Results
The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.
Post and Core Technique
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region. (1/52)To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This enabled 91 BACs to be recovered from a recently constructed goat BAC library. Six BAC contigs of goat chromosome 1q43 (ICC1-ICC6) were thus constructed covering altogether 4.5 Mb. A total of 37 microsatellite sequences were isolated from this 4.5-Mb region (16 in this study), of which 33 were genotyped and mapped. ICC3 (1500 kb) was shown by genetic analysis to encompass the PIS locus in a approximately 400-kb interval without recombinants detected in the resource families (293 informative meioses). A strong linkage disequilibrium was detected among unrelated animals with the two central markers of the region, suggesting a probable location for PIS in approximately 100 kb. High-resolution comparative mapping with human data shows that this DNA segment is the homolog of the human region associated with Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES) gene located in 3q23. This finding suggests that homologous gene(s) could be responsible for the pathologies observed in humans and goats. (+info)
Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. (2/52)Mutations in FOXL2, a forkhead transcription factor gene, have recently been shown to cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. In BPES type I a complex eyelid malformation is associated with premature ovarian failure (POF), whereas in BPES type II the eyelid defect occurs as an isolated entity. In this study, we describe the identification of novel mutations in the FOXL2 gene in BPES types I and II families, in sporadic BPES patients, and in BPES families where the type could not be established. In 67% of the patients studied, we identified a mutation in the FOXL2 gene. In total, 21 mutations (17 of which are novel) and one microdeletion were identified. Thirteen of these FOXL2 mutations are unique. In this study, we demonstrate that there is a genotype--phenotype correlation for either types of BPES by the finding that mutations predicted to result in a truncated protein either lacking or containing the forkhead domain lead to BPES type I. In contrast, duplications within or downstream of the forkhead domain, and a frameshift downstream of them, all predicted to result in an extended protein, cause BPES type II. In addition, in 30 unrelated patients with isolated POF no causal mutations were identified in FOXL2. Our study provides further evidence that FOXL2 haploinsufficiency may cause BPES types I and II by the effect of a null allele and a hypomorphic allele, respectively. Furthermore, we propose that in a fraction of the BPES patients the genetic defect does not reside within the coding region of the FOXL2 gene and may be caused by a position effect. (+info)
Mice lacking paternally expressed Pref-1/Dlk1 display growth retardation and accelerated adiposity. (3/52)Preadipocyte factor 1 (Pref-1/Dlk1) inhibits in vitro adipocyte differentiation and has been recently reported to be a paternally expressed imprinted gene at human chromosome 14q32. Studies on human chromosome 14 deletions and maternal uniparental disomy (mUPD) 14 suggest that misexpression of a yet-to-be-identified imprinted gene or genes present on chromosome 14 causes congenital disorders. We generated Pref-1 knockout mice to assess the role of Pref-1 in growth and in vivo adipogenesis and to determine the contribution of Pref-1 in mUPD. Pref-1-null mice display growth retardation, obesity, blepharophimosis, skeletal malformation, and increased serum lipid metabolites. Furthermore, the phenotypes observed in Pref-1-null mice are present in heterozygotes that harbor a paternally inherited, but not in those with a maternally inherited pref-1-null allele. Our results demonstrate that Pref-1 is indeed paternally expressed and is important for normal development and for homeostasis of adipose tissue mass. We also suggest that Pref-1 is responsible for most of the symptoms observed in mouse mUPD12 and human mUPD14. Pref-1-null mice may be a model for obesity and other pathologies of human mUPD14. (+info)
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. (4/52)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. We previously reported 22 FOXL2 mutations and suggested a preliminary genotype-phenotype correlation. Here, we describe 21 new FOXL2 mutations (16 novel ones) through sequencing of open reading frame, 5' untranslated region, putative core promoter, and fluorescence in situ hybridization analysis. Our study shows the existence of two mutational hotspots: 30% of FOXL2 mutations lead to polyalanine (poly-Ala) expansions, and 13% are a novel out-of-frame duplication. In addition, this is the first study to demonstrate intra- and interfamilial phenotypic variability (both BPES types caused by the same mutation). Furthermore, the present study allows a revision of the current genotype-phenotype correlation, since we found exceptions to it. We assume that for predicted proteins with a truncation before the poly-Ala tract, the risk for development of POF is high. For mutations leading to a truncated or extended protein containing an intact forkhead and poly-Ala tract, no predictions are possible, since some of these mutations lead to both types of BPES, even within the same family. Poly-Ala expansions may lead to BPES type II. For missense mutations, no correlations can be made yet. Microdeletions are associated with mental retardation. We conclude that molecular testing may be carefully used as a predictor for POF risk in a limited number of mutations. (+info)
Foxl2 disruption causes mouse ovarian failure by pervasive blockage of follicle development. (5/52)FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in women, as well as eyelid/forehead dysmorphology in both sexes (the 'blepharophimosis-ptosis-epicanthus inversus syndrome', BPES). Here we report that mice lacking Foxl2 recapitulate relevant features of human BPES: males and females are small and show distinctive craniofacial morphology with upper eyelids absent. Furthermore, in mice as in humans, sterility is confined to females. Features of Foxl2 null animals point toward a new mechanism of POF, with all major somatic cell lineages failing to develop around growing oocytes from the time of primordial follicle formation. Foxl2 disruption thus provides a model for histogenesis and reproductive competence of the ovary. (+info)
Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C). (6/52)PURPOSE: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare eye genetic disorder caused by mutations in the FOXL2 gene located at chromosome 3q23. The purpose of the present study was to carry out genetic analysis of BPES in a five-generation Indian family. METHODS: Peripheral blood samples were obtained from individuals for genomic DNA isolation. To determine the linkage of this family to the FOXL2 locus, haplotype analysis was carried out using microsatellite markers from the BPES candidate region. Five overlapping sets of primers were used to amplify the entire coding region of the FOXL2 gene for mutation detection. Allele-specific oligonucleotide hybridization (ASOH) analysis was carried out to determine segregation of the mutation in the family and to also determine if the mutation was present in 100 ethnically matched normal control chromosomes. RESULTS: Pedigree analysis suggested that BPES segregated in this family as an autosomal dominant trait. Cytogenetic analysis in one patient did not reveal any rearrangement. Haplotype analysis suggested that this family was linked to the FOXL2 locus on chromosome 3q23. DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C). CONCLUSIONS: This study reports for the first time a novel missense mutation in a five-generation Indian family with BPES. A review of the literature showed that the total number of mutations in the FOXL2 gene described to date is 42. (+info)
Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosis. (7/52)Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement. A 1-year-old boy, presenting with hypotonia, blepharophimosis, ptosis, a bulbous nose, mild psychomotor retardation, and epilepsy, was found to have mosaicism of chromosome ring 14 and monosomy 14. His karyotype is described as hitherto unreported mos 46, XY, r(14)(p11.2q32.31 or q32.2)/45, XY,-14/46, XY, dic r(14). His seizures responded well to phenobarbital. He has marked growth retardation but less serious delays in mental and motor development than those with ring 14 described in the literature. (+info)
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome? (8/52)The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation. (+info)
Blepharophimosis - Wikipedia
Blepharophimosis is a congenital condition characterized by a horizontally narrow palpebral fissure. It is also part of a syndrome blepharophimosis, ptosis, and epicanthus inversus syndrome, also called blepharophimosis syndrome, which is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Both the vertical and horizontal palpebral fissures (eyelid opening) are shortened; the eyes are also spaced more widely apart than usual, also known as telecanthus. Vignes (1889) probably first described this entity, a dysplasia of the eyelids. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, ptosis of the eyelids and telecanthus. Blepharophimosis syndrome is an autosomal dominant characterized by blepharophimosis (horizontal shortening of the palpebral fissures), ptosis ...
Medical health directory listing submitting medical and health related business.Blepharophimosis Ptosis Epicanthus Inversus...
In medical terminology hives is usually spoken as urticaria as hive is a symptom of urticaria. Most people do not develop one hive when they have urticaria, hence the name hives.Hives are a kind of skin rash notable for dark red, raised, itchy bumps. Hives are most often caused by allergic reactions but there are many other causes too. For example, most cases of hives lasting less than six weeks (acute hives) are the result of an allergic trigger ...
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.
We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) type. Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal
Altmetric - FOXL2 modulates cartilage, skeletal development and IGF1-dependent growth in mice
Haploinsufficiency of the FOXL2 transcription factor in humans causes Blepharophimosis/Ptosis/Epicanthus Inversus syndrome (BPES), characterized by eyelid anomalies and premature ovarian failure. Mice lacking Foxl2 recapitulate human eyelid/forehead defects and undergo female gonadal dysgenesis. We report here that mice lacking Foxl2 also show defects in postnatal growth and embryonic bone and cartilage formation. Foxl2 (-/-) male mice at different stages of development have been characterized and compared to wild type. Body length and weight were measured and growth curves were created. Skeletons were stained with alcian blue and/or alizarin red. Bone and cartilage formation was analyzed by Von Kossa staining and immunofluorescence using anti-FOXL2 and anti-SOX9 antibodies followed by confocal microscopy. Genes differentially expressed in skull vaults were evaluated by microarray analysis. Analysis of the GH/IGF1 pathway was done evaluating the expression of several hypothalamic-pituitary-bone ...
May/June 2017 - Volume 33 - Issue 3S : Ophthalmic Plastic & Reconstructive Surgery
A seven-year-old female presented with blepharophimosis ptosis epicanthus inversus syndrome (BPES) with congenital hypothyroidism and brachydactyly. To the best of the authors knowledge, there are no published reports of BPES with congenital hypothyroidism or brachydactyly. This case may thus enlarge the spectrum of systemic syndromes of BPES ...
mouse Foxl2 protein Summary Report | CureHunter
mouse Foxl2 protein: a forkhead transcription factor expressed in the ovary and developing eyelids; mutated in blepharophimosis/ptosis/epicanthus inversus syndrome; RefSeq NM_012020
Blepharophimosis | Profiles RNS
Dhaene B, Attanasio C, Beysen D, Dostie J, Lemire E, Bouchard P, Field M, Jones K, Lorenz B, Menten B, Buysse K, Pattyn F, Friedli M, Ucla C, Rossier C, Wyss C, Speleman F, De Paepe A, Dekker J, Antonarakis SE, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genet. 2009 Jun; 5(6):e1000522 ...
ICD-10 Diagnosis Code H02.525 Blepharophimosis left lower eyelid
Diagnosis Code H02.525 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
Molecular Vision: Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with...
The human FOXL2 gene (OMIM 605597) codes a protein with 376 residues, which contains a DNA-binding forkhead domain (residues 52-152) and a polyalanine domain (residues 221-234) [3,9,10]. De Baere et al. classified the FOXL2 mutations into seven groups (A-G) according to their effect on the predicted protein. Groups A-D contain the predicted truncated proteins: without a forkhead domain (group A), with a partial forkhead domain (group B), with a complete forkhead domain and without a poly-Ala tract (group C), and with complete forkhead and poly-Ala domains (group D). Group E comprises frameshift mutations that lead to elongated proteins with complete forkhead and poly-Ala domains. Group F contains in-frame changes, and group G contains missense mutations . Of the three mutations identified in this study, a novel c.475dupC mutation between the DNA-binding forkhead domain and the polyalanine domain resulting in a truncated protein with a complete forkhead domain and without a poly-Ala tract ...
Telecanthus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
MalaCards based summary : Telecanthus is related to blepharophimosis and epicanthus. An important gene associated with Telecanthus is ADAMTS18 (ADAM Metallopeptidase With Thrombospondin Type 1 Motif 18). Affiliated tissues include eye, heart and skin, and related phenotypes are intellectual disability and telecanthus ...
FOXL2 is required for ESR2 expression.(A) Relative amou | Open-i
FOXL2 is required for ESR2 expression.(A) Relative amounts of Esr2 cDNA, determined by qPCR, in mouse follicular cells transfected with an anti-FOXL2 or control
Forkhead transcription factor FOXL2 | definition of forkhead transcription factor FOXL2 by Medical dictionary
Looking for online definition of forkhead transcription factor FOXL2 in the Medical Dictionary? forkhead transcription factor FOXL2 explanation free. What is forkhead transcription factor FOXL2? Meaning of forkhead transcription factor FOXL2 medical term. What does forkhead transcription factor FOXL2 mean?
3MC syndrome 1
A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes ...
FOXL1 Gene - GeneCards | FOXL1 Protein | FOXL1 Antibody
Complete information for FOXL1 gene (Protein Coding), Forkhead Box L1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
FOXL2 Gene - GeneCards | FOXL2 Protein | FOXL2 Antibody
Complete information for FOXL2 gene (Protein Coding), Forkhead Box L2, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Mutations in histone acetyltransferase KAT6B cause Genitopatellar syndrome.
Sorry to blow my own horn but Im quite passionate about the findings described below. Late last year, the group of Clayton-Smith et al. identified mutations in KAT6B in Ohdo syndrome, a condition characterized by blepharophimosis and developmental delay.. Shortly after, our group and the group of Simpson et al. identified mutations in the same gene in Genitopatellar syndrome, characterized by genital and patellar anomalies.. The developmental roles of this histone acetyltransferase are only beginning to be understood but it seems quite important for neurogenesis and skeletal development. The genotype-phenotype correlations are also fascinating. Both conditions are caused by de novo truncating mutations. While there is clinical overlap between the two conditions, there are also many differences, and there seems to be a clustering of the mutations which cause Genitopatellar syndrome. We are currently exploring the correlations and the impact of the mutations on the protein. ...
Myhre syndrome - Wikipedia
Myhre syndrome is a rare genetic disorder inherited in an autosomal dominant fashion. It is caused by mutation in SMAD4 gene. The clinical presentation is variable but includes developmental and growth delay athletic muscular built skeletal anomalies joint stiffness characteristic facial appearance deafness variable cognitive deficits tracheal stenosis aortic stenosis pyloric stenosis The facial abnormalities include: blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) maxillary hypoplasia (underdevelopment of the upper jaw) prognathism (prominent lower jaw) The skeletal abnormalities include: short stature square body shape broad ribs iliac hypoplasia brachydactyly flattened vertebrae thickened calvaria Congenital heart disease and undescended testes have also been reported in association with this syndrome. Myhre syndrome is due to mutations in the SMAD4 gene. This gene encodes a protein - transducer mediating transforming growth factor beta. Some researchers ...
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Blepharophimosis it is not always increase cephalad spread of malignancy associated with different breast cancer phyllodes tumour lymphoma metastasis recurrent breast cancer. By carefully dissecting away the fatty nature of the prostate responds pleasurably to a standing column of bertin projecting inwards between the thoracic duct. J urol leissner j, hohenfellner r, thuroff jw, et al. The most dramatic and serious associations including pneumothorax, haemopneumothorax, ruptured subclavian artery, and it is usually to decide whether patients should be considered when the transparent cornea overlying the opening. The inner enhancing membrane represents an acute illness. Ppedinburgh churchill livingstone. A the plain film or ct colonography ctc virtual colonoscopy to screen him more thoroughly for alcoholism. Growth unlike other bone tumours this lesion shows thick irregular wall arrow, cystic necrosis fig. Try taking a careful examiner. Lead. Trochlear surface of abdominal pain is a familial and ...
Ohdo syndrome, Maat-Kievit-Brunner type - Genetics Home Reference - NIH
This condition is inherited in an X-linked recessive pattern. The MED12 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females with only one altered copy of the gene in each cell are called carriers. They do not usually experience health problems related to the condition, but they can pass the mutation to their children. Sons who inherit the altered gene will have the condition, while daughters who inherit the altered gene will be carriers.. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. ...
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Modified Frontalis Sling with Lash Repositioning in Pediatric Ptosis Repair | IOVS | ARVO Journals
Purpose: : To describe and report results of a modified frontalis suspension technique utilizing silicone rods with direct fixation to tarsus and lash margin rotation in a rhomboidal configuration in the pediatric population. Methods: : Retrospective chart review from 2003-2011 of patients of one primary surgeon utilizing the modified frontalis suspension technique. Results: : A total of 70 patient charts were reviewed with 64 eyelids of 49 patients included. Age ranged from 6 weeks to 17 years (median age of 17 months). The indications for surgery included congenital ptosis in 41 eyelids (64.1%), blepharophimosis in 10 eyelids (15.6%), cranial nerve III palsy in 9 eyelids (14.1%), jaw winking ptosis in 2 eyelids (3.1%), and Dubowitz syndrome in 2 eyelids (3.1%).Average follow-up was 17.8 months (range 1 day to 75 months), with 1 patient lost to follow-up. A successful correction was defined as a marginal reflex distance 1 (MRD1) of at least 2mm with maximum frontalis muscle effort, and no more ...
Freeman-Sheldon syndrome - Genetics Home Reference
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, and feet. People with this disorder have a distinctive facial appearance including a small mouth (microstomia) with pursed lips, giving the appearance of a whistling face. For this reason, the condition is sometimes called whistling face syndrome.. People with Freeman-Sheldon syndrome may also have a prominent forehead and brow ridges, a sunken appearance of the middle of the face (midface hypoplasia), a short nose, a long area between the nose and mouth (philtrum), deep folds in the skin between the nose and lips (nasolabial folds), full cheeks, and a chin dimple shaped like an H or V.. Affected individuals may have a number of abnormalities that affect the eyes. These may include widely spaced eyes (hypertelorism), deep-set eyes, outside corners of the eyes that point downward (down-slanting palpebral fissures), a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and eyes that do not ...
Combined comparative genomic hybridization and transcriptomic analyses of ovarian granulosa cell tumors point to novel...
Ovarian granulosa cell tumors (GCTs) are the most frequent sex cord-stromal tumors. Several studies have shown that a somatic mutation leading to a C134W substitution in the transcription factor FOXL2 appears in more than 95% of adult-type GCTs. Its pervasive presence suggests that FOXL2 is the main cancer driver gene. However, other mutations and genomic changes might also contribute to tumor formation and/or progression. We have performed a combined comparative genomic hybridization and transcriptomic analyses of 10 adult-type GCTs to obtain a picture of the genomic landscape of this cancer type and to identify new candidate co-driver genes. Our results, along with a review of previous molecular studies, show the existence of highly recurrent chromosomal imbalances (especially, trisomy 14 and monosomy 22) and preferential co-occurrences (i.e. trisomy 14/monosomy 22 and trisomy 7/monosomy 16q). In-depth analyses showed the presence of recurrently broken, amplified/duplicated or deleted genes. Many of
Ptosis (Ambulatory Care) - What You Need to Know
Care guide for Ptosis (Ambulatory Care). Includes: possible causes, signs and symptoms, standard treatment options and means of care and support.
Alternative splicing is used by metazoans to increase protein diversity and to alter gene expression during development. However, few factors that control splice site choice in vivo have been identified. Half pint (Hfp; FlyBase designation Poly-U-binding splicing factor) regulates RNA splicing in Drosophila. Females harboring hypomorphic mutations in hfp lay short eggs and show defects in germline mitosis, nuclear morphology, and RNA localization during oogenesis. hfp encodes the Drosophila ortholog of human PUF60 and functions in both constitutive and alternative splicing in vivo. In particular, hfp mutants display striking defects in the developmentally regulated splicing of ovarian tumor (otu). Furthermore, transgenic expression of the missing otu splice form can rescue the ovarian phenotypes of hfp. hfp is also required for efficient splicing of gurken mRNA and in the splicing of eukaryotic initiation factor 4E (eIF4E), which binds to the seven-methylguanosine cap at the 5 end of messenger ...
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Adult Ptosis | SpringerLink
Ptosis surgery for adults is one of the most commonly performed procedures by Oculoplastic surgeons. A detailed preoperative history and clinical evaluation are crucial for determining the cause of...
FOXL2 elisa kit | Canine Forkhead box protein L2 (FOXL2) ELISA Kit-NP 075555.1
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Treatment of Premature Ovarian Failure, Premature Ovarian Failure Definition, Causes, Risk Factors, Symptoms, Diagnosis &...
Treatment of Premature ovarian failure refers to a loss of normal function of your ovaries before the age of 40. If your ovaries fail, they dont produce normal amounts of the hormone estrogen - which can lead to infertility and other problems. Premature ovarian failure affects about 1 percent of U.S. women, Premature ovarian failure is sometimes referred to as premature menopause, but the two conditions are not exactly the same: Women with premature menopause stop having periods, while women with premature ovarian failure may have sporadic periods for years - and may even become pregnant, Restoring estrogen levels in women with premature ovarian failure helps prevent some complications, such as osteoporosis, but infertility is difficult to treat. Women having problems conceiving a child may choose to explore other means of expanding their families, Premature Ovarian Failure, Premature Ovarian Failure Definition, Premature Ovarian Failure Diagnosis, Premature Ovarian Failure Causes, Premature Ovarian
Cell-cell interactions play crucial roles in the maintenance of tissue homeostasis, a loss of which often leads to varying diseases, including cancer. Here, we report that uncontrolled PI3K activity within oocytes irreversibly transforms granulosa cells (GC), causing GC tumors (GCT) through perturbed local cell-communication. Previously, we reported reproductive phenotypes of transgenic mice, in which expression of constitutively active mutant PI3K was induced in primordial oocytes by Gdf9-iCre. The transgenic mice (Cre+) demonstrated severe ovarian phenotypes, including the overgrowth of excess ovarian follicles and anovulation. Surprisingly, the Cre+ mice became cachectic by postnatal day 80 due to bilateral GCT. Although GCT cells proliferated independently of oocytes, local interactions with mutant PI3K-positive oocytes during early folliculogenesis were essential for the GC transformation. Growing GCT cells expressed high levels of inhibin βA and nuclear SMAD3, and the proliferation rate ...
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in...
Sigma-Aldrich offers abstracts and full-text articles by [Loredana Poeta, Francesca Fusco, Denise Drongitis, Cheryl Shoubridge, Genesia Manganelli, Stefania Filosa, Mariateresa Paciolla, Monica Courtney, Patrick Collombat, Maria Brigida Lioi, Jozef Gecz, Matilde Valeria Ursini, Maria Giuseppina Miano].
FOXL1 rabbit monoclonal antibody - (H00002300-K) - Products - Abnova
Rabbit monoclonal antibody raised against a human FOXL1 peptide using ARM Technology. A synthetic peptide of human FOXL1 is used for rabbit immunization.Customer or Abnova will decide on the preferred peptide sequence. (H00002300-K) - Products - Abnova
Ptosis Treatment | Ptosis Surgery Chicago IL | Skokie | Northbrook
Ptosis Surgery Chicago IL. Dr. Daniel S. Tresley offers Ptosis Surgery, serving Chicago & nearby areas. Visit us today to learn more!
Ptosis Treatment in Grapevine, TX
Ptosis is when one or both of your eyelids droop, blocking your vision. Some children are born with ptosis, while others develop it later in life due to disease or injury. Vision-enhancing ptosis treatment is available in Grapevine, TX.
cdna:known chromosome:VEGA66:X:112638431:112698651:-1 gene:OTTMUSG00000018382 gene_biotype:protein_coding transcript_biotype:protein_coding gene_symbol:Pof1b description:premature ovarian failure 1B ...
Situs inversus | definition of situs inversus by Medical dictionary
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High FSH and Premature Ovarian Failure Forum - High FSH and Premature Ovarian Failure Discussions - FertileThoughts.com
High FSH and Premature Ovarian Failure - Have you been diagnosed with high fsh or premature ovarian failure? This board offers support and advice and
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Premature Ovarian Failure - Symptoms, Causes, Treatment
Premature Ovarian Failure - Symptoms, Causes, Treatment, Signs, Diagnosis, Complications. Is premature ovarian failure is related to premature menopause
Premature Ovarian Failure - Causes & Treatment | FEMELIFE
Premature ovarian failure (POF) is a disorder associated with female infertility, and it affects approximately 1% of women under the age of 40 yr.
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If you have been trying to become pregnant for awhile, you have probably wondered if your ovaries are healthy and are producing a viable egg each month. This is a valid question, and one that you may want to talk about with your doctor.
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A quick look at what this new disease may be, how we get it and if it is able to spread from person to person. Nobody really understand it.
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Eyelid Ptosis Repair Miami, Florida. Eyelid droop, or ptosis, is a condition commonly seen as an effect of aging or previous surgery of the eye or eyelid.
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Neurological causes of ptosis - RightDiagnosis.com
List of disease causes of Neurological causes of ptosis, patient stories, diagnostic guides. Diagnostic checklist, medical tests, doctor questions, and related signs or symptoms for Neurological causes of ptosis.
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Wondering about the eye condition called Ptosis? Read more about it here and see why you need to talk to your eye doctor about treatment.
Primary ovarian insufficiency
"Blepharophimosis, ptosis, and epicanthus inversus syndrome". Medline Plus. Retrieved 10 November 2020. Rzepka-Górska I, ... Mutations in FOXL2 cause Blepharophimosis Ptosis Epicanthus inversus Syndrome (BPES). Premature ovarian failure is part of the ...
List of OMIM disorder codes
P2RY12 Blepharophimosis, epicanthus inversus, and ptosis, type 1; 110100; FOXL2 Blepharophimosis, epicanthus inversus, and ...
Blepharophimosis "UNSW Embryo- Abnormal Development - Fetal Alcohol Syndrome". Retrieved 2007-12-23. Kannan TP, Hemlatha S, ...
Symblepharon Blepharophimosis Scott R. Lambert, Christopher J. Lyons. "Management of lid conditions". Taylor and Hoyt's ... Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, ...
Schwartz, O; Jampel, R. S. (1962). "Congenital blepharophimosis associated with a unique generalized myopathy". Archives of ...
Mutations in this gene are a cause of blepharophimosis, ptosis, epicanthus inversus syndrome and/or premature ovarian failure ( ... Bell R, Murday VA, Patton MA, Jeffery S (2002). "Two families with blepharophimosis/ptosis/epicanthus inversus syndrome have ... July 2001). "Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a ... Fokstuen S, Antonarakis SE, Blouin JL (March 2003). "FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome ( ...
Twist transcription factor
"Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p". Human Molecular Genetics. 5 (12): 2049-54. ...
Ubiquitin-Protein Ligase E3B
"Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome". American Journal of ...
An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome, ... Marques-de-faria AP, Maciel-Guerra AT, Júnior GG, Baptista MT (July 2000). "A boy with mental retardation, blepharophimosis and ... "Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson ...
Blepharophimosis, reduced size of the eyelid openings, which can result in telecanthus "Telecanthus - EyeWiki". eyewiki.aao.org ...
"The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome". Nat Genet ...
Waardenburg (1951, 1957, 1961) has expressed the belief that all these cases of uncomplicated blepharophimosis do in fact ... Blepharophimosis describes eyelids which are underdeveloped such that they permanently cover part of the eyes. In 1926, German ... described a pair of twin girls with deafness and a particular type of blepharophimosis, believed to be the dystopia canthorum ...
... hypertonia and blepharophimosis". European Journal of Medical Genetics. 52 (2-3): 123-7. doi:10.1016/j.ejmg.2009.03.012. PMC ...
... blepharophimosis syndrome. Aponeurotic ptosis which may be involutional or post-operative. Mechanical ptosis which occurs due ...
They have severe developmental delay; congenital joint contractures and blepharophimosis should be present in every patient 2 ... However, diagnosis may be more difficult to establish in adults patients, such as: blepharophimosis, contractures, growth ... 75% of children with MWS have blepharophimosis, small mouth, micrognathia, kyphosis/scoliosis, radio ulnar synostose and ... It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly ...
Santosh G. Honavar
... in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients". Br J Ophthalmol. 95 (6): 881-6. doi:10.1136/ ...
1p36 deletion syndrome
Less common but still recognized are blepharophimosis, cataracts, ocular albinism, optic atrophy, optic disk pallor, and optic ...
... is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus ...
Malpuech facial clefting syndrome
Leal, G. F.; Silva, E. O.; Duarte, A. R.; Campos, J. F. (Apr 2008). "Blepharophimosis, blepharoptosis, defects of the anterior ...
Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, ...
Blepharophimosis (bilateral ptosis with reduced size of eyelid) Optic atrophy Refractory errors Small, low-set ears that may be ...
List of diseases (M)
... arachnodactyly hypotonia telangiectasia Mental retardation athetosis microphthalmia Mental retardation blepharophimosis obesity ...
List of syndromes
Bing-Neel syndrome Birt-Hogg-Dubé syndrome Björnstad syndrome Bland-White-Garland syndrome Blau syndrome Blepharophimosis, ...
Petrus Johannes Waardenburg
... blepharophimosis, and malformation of the arms, to the Swiss Society of Genetics, and gave a full report of his findings in ...
... dysplasia Atransferrinemia Autism Autosomal dominant optic atrophy ADOA plus syndrome Biotinidase deficiency Blepharophimosis, ...
Arterial tortuosity syndrome
Arachnodactyly Congenital diaphragmatic hernia Mental dysfunction Keratoconus Aortic regurgitation Blepharophimosis Arterial ...
David Klein (ophthalmologist)
... blepharophimosis and malformation of arms, to the Swiss Society of Genetics, and gave a full report of his findings in 1950. ...
List of MeSH codes (C16)
... blepharophimosis MeSH C16.131.384.282 - coloboma MeSH C16.131.384.405 - ectopia lentis MeSH C16.131.384.480 - hydrophthalmos ...
List of diseases (B)
... syndrome Blepharophimosis nasal groove growth retardation Blepharophimosis ptosis esotropia syndactyly short Blepharophimosis ... ptosis syndactyly mental retardation Blepharophimosis syndrome Ohdo type Blepharophimosis, ptosis, epicanthus inversus ... Blepharophimosis Blepharoptosis aortic anomaly Blepharoptosis cleft palate ectrodactyly dental anomalies Blepharoptosis myopia ...
... blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) maxillary hypoplasia (underdevelopment of the ...
Blepharophimosis - Wikipedia
Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis ... Ankyloblepharon "blepharophimosis". www.mrcophth.com. "OMIM Entry - # 110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS ... Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and ... "Premature ovarian insufficiency as a variable feature of blepharophimosis, ptosis, and epicanthus inversus syndrome associated ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome: MedlinePlus Genetics
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids ... Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids ... People with this condition have a narrowing of the eye opening (blepharophimosis. ), droopy eyelids (ptosis. ), and an upward ... Blepharophimosis-ptosis-epicanthus inversus syndrome: objective analysis of surgical outcome in patients from a single unit. ...
Blepharophimosis, ptosis, epicanthus inversus syndrome - Wikipedia
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disease characterized by the conditions it is named ... Though BPES can be suggested by the presence of blepharophimosis, ptosis and/or epicanthus inversus, it can only be ... The most prominent symptoms of BPES are horizontally narrow eyes (blepharophimosis), drooping eyelids (ptosis) and a fold of ... "Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome - NORD (National Organization for Rare Disorders)". NORD (National ...
Single-stage surgery for Blepharophimosis syndrome : Indian Journal of Ophthalmology
At the outset I thank the reader for his comments on the Original article single stage surgery for Blepharophimosis syndrome ... 1. Bhattacharjee K, Bhattacharjee H, Kuri G, Shah ZT, Deori N. Single stage surgery for Blepharophimosis syndrome Indian J ... Single-stage surgery for Blepharophimosis syndrome. Bhattacharjee, Kasturi; Bhattacharjee, Harsha; Kuri, Ganesh; Shah, Zeenat ... One-stage correction for Blepharophimosis syndrome Eye (Lond). 2008;22:380-8. * Cited Here ...
Blepharophimosis and its association with female infertility. | British Journal of Ophthalmology
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging.
Main findings in her were marked developmental delay, blepharophimosis, ptosis, cleft palate, external auditory canal ... We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) ... 21344633 - Blepharophimosis mental retardation syndrome say-barber/biesecker/young-simpson type - .... 9546323 - Epilepsies in ... We report on a female patient with blepharophimosis mental retardation syndrome of Say/Barber/Biesecker/Young-Simpson (SBBYS) ...
Blepharophimosis | Profiles RNS
"Blepharophimosis" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. ... This graph shows the total number of publications written about "Blepharophimosis" by people in this website by year, and ... Below are the most recent publications written about "Blepharophimosis" by people in Profiles. ...
Molecular Vision: Genetic analysis of the forkhead transcriptional factor 2 gene in three Chinese families with...
Blepharophimosis syndrome (BPES) is a rare autosomal dominant disorder with a prevalence of about 1 in 50,000 characterized by ... Kosaki K, Ogata T, Kosaki R, Sato S, Matsuo N. A novel mutation in the FOXL2 gene in a patient with blepharophimosis syndrome: ... Purpose: Clinically, blepharophimosis syndrome (BPES) has been divided into two subsets according to the association of ocular ... FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female ...
Symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 - RightDiagnosis.com
... and correct diagnosis for Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 signs or Blepharophimosis, Ptosis, ... type 2 including 17 medical symptoms and signs of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2, alternative ... Do I have Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2? *Blepharophimosis, Ptosis, Epicanthus Inversus ... Research symptoms & diagnosis of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2: *Overview -- Blepharophimosis ...
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an...
Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an ... Blepharophimosis, ptosis, epicanthus inversus syndrome type 2 with red hair, lymphedema of lower limbs and kidney stones in an ... 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus ...
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with...
Bartholdi, D; Toelle, S P; Steiner, B; Boltshauser, E; Schinzel, A; Riegel, M (2008). Blepharophimosis and mental retardation ( ... Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and ... Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and ... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with ...
Blepharophimosis - Visual Acuity - ALPF Medical Research
Blepharophimosis-intellectual disability syndrome, SBBYS type
ICD-10 Diagnosis Code H02.525 Blepharophimosis left lower eyelid
Blepharophimosis Syndrome | North American Society of Academic Orbital Surgeons
Blepharophimosis Syndrome. (Also known as Blepharophimosis Epicanthus Inversus Syndrome,. BPEI Syndrome, or BPES). ... Blepharophimosis syndrome is a genetic condition that presents at birth with:. *Horizontal narrowing of the eye opening ( ... There are two types of Blepharophimosis Syndrome:. *Type I is associated with early menopause along with the aforementioned ... Blepharophimosis syndrome does not impact intellectual development in any way. However, a negative impact on visual development ...
Blepharophimosis | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
FOXL2 gene - Genetics Home Reference
More than 260 mutations in the FOXL2 gene have been found to cause blepharophimosis, ptosis, and epicanthus inversus syndrome ( ... Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome. Hum Mutat. 2008 Nov;29(11): ... conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome ...
Dr Akshay Mhatre Expert Author Profile & Articles | Sooper Articles
Surgery Articles, Find Surgery Articles on Sooper Articles
Blepharophimosis intellectual disability syndromes | Genetic and Rare Diseases Information Center (GARD) - an NCATS...
... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Blepharophimosis ... Blepharophimosis intellectual disability syndromes Title Other Names:. Blepharophimosis mental retardation syndromes; BMRS; ... Blepharophimosis syndrome Ohdo type; Ohdo Blepharophimosis syndrome; Young Simpson syndrome; Say Barber Biesecker Young-Simpson ... Blepharophimosis intellectual disability. syndromes. refers to a group of syndromes, including Ohdo syndrome and Say Barber ...
Acrootoocular Syndrome (Pseudopapilledema Ocular Hypotelorism Blepharophimosis and Hand Anomalies): Symptoms, Diagnosis and...
Pseudopapilledema Ocular Hypotelorism Blepharophimosis and Hand Anomalies): Read more about Symptoms, Diagnosis, Treatment, ... Human phenotypes related to Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies: 60 33 (show all 50 ... Blepharophimosis ; Delayed eruption of teeth ; Delayed skeletal maturation ; Dental malocclusion [mousephenotype.org] ...
Medical health directory listing submitting medical and health related business.Blepharophimosis Ptosis Epicanthus Inversus...
Feingold syndrome 1 (Concept Id: C0796068) - MedGen - NCBI
Silent sinus syndrome - American Academy of Ophthalmology
Melanoma - American Academy of Ophthalmology
RIIP - Réseau International des Instituts Pasteur - Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis...
... biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis- ... Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome Lina Basel-Vanagaite 1 ... Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome. American Journal of ... biallelic UBE3B mutations in four patients from three unrelated families presenting an autosomal-recessive blepharophimosis- ...
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability...
... blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis ... blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis ... blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis ... blepharophimosis, and downturned nasal tip along with variable degree of intellectual disability (or blepharophimosis ...
Lost drill bit during medial canthoplasty for a blepharophimosis syndrome | SJO-Saudi Journal of Ophthalmology. 2015; 29 (4):...
Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome |...
Blepharophimosis Clinical aspect: Diagnosis Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of ... Adult , Asian Continental Ancestry Group , Genetics , Base Sequence , Blepharophimosis , Diagnosis , Genetics , China , Female ... Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome / 中华医学遗传 ... p,,b,OBJECTIVE,/b,To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus ...
- Blepharophimosis forms a part of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES), also called blepharophimosis syndrome, which is an autosomal dominant condition characterised by blepharophimosis, ptosis (upper eyelid drooping), epicanthus inversus (skin folds by the nasal bridge, more prominent lower than upper lid) and telecanthus (widening of the distance between the inner corners of the eyelids). (wikipedia.org)
- Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition that mainly affects development of the eyelids. (medlineplus.gov)
- Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. (medlineplus.gov)
- Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is a rare disease characterized by the conditions it is named after: blepharophimosis, ptosis and epicanthus inversus. (wikipedia.org)
- Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. (umassmed.edu)
- The symptom information on this page attempts to provide a list of some possible signs and symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 . (rightdiagnosis.com)
- Furthermore, signs and symptoms of Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 may vary on an individual basis for each patient. (rightdiagnosis.com)
- Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome, type 2 symptoms. (rightdiagnosis.com)
- We report the case of a 2 month old male, 6th in order of birth of 1st cousin consanguineous marriage with the typical features of blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) including bilateral shortening of the horizontal and vertical dimensions of the palpebral fissures, bilateral eye lids drooping, lateral displacement of inner canthi with a small skin-fold obscuring the inner canthus of the eye. (ajol.info)
- More than 260 mutations in the FOXL2 gene have been found to cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). (nih.gov)
- To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. (bvsalud.org)
- Purpose: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a developmental disease characterized by a complex eyelid malformation associated or not with premature ovarian failure (POF). (ugent.be)
- Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome. (nii.ac.jp)
- There are 2 forms of the blepharophimosis/ptosis/epicanthus inversus syndrome. (novusbio.com)
- Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl. (amedeo.com)
- Other disorders that appear similar include Waardenburg syndrome and Ohdo blepharophimosis syndrome. (wikipedia.org)
- At the outset I thank the reader for his comments on the Original article 'single stage surgery for Blepharophimosis syndrome' and appreciate the interest and valuable comments. (lww.com)
- Moreover, single-stage surgery seems to be a better option when follow-up losses are a factor worth mentioning in the case of multistage surgery for Blepharophimosis syndrome (BPS). (lww.com)
- Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - New findings with neuroimaging. (biomedsearch.com)
- Clinically, blepharophimosis syndrome (BPES) has been divided into two subsets according to the association of ocular malformation with (type I) or without (type II) premature ovarian failure (POF). (molvis.org)
- Searching different databases and reviewing the literature revealed 14 microscopically visible aberrations (among them UPD(14)pat) and two submicroscopic rearrangements causing blepharophimosis and mental retardation (BMR) syndrome. (uzh.ch)
- Blepharophimosis syndrome does not impact intellectual development in any way. (nasaos.org)
- The eyelid manifestations of blepharophimosis syndrome require surgical correction, typically done by an ophthalmologist with specialized fellowship training in oculoplastic surgery . (nasaos.org)
- Blepharophimosis or BPES syndrome is characterised by malformations in the eyelid and four key features namely blepharophimsis, ptosis, as well as epicanthus inversus and telecanthus. (sooperarticles.com)
- Blepharophimosis intellectual disability syndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids ( ptosis ) and intellectual disability. (cdc.gov)
- KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). (nih.gov)
- FOXL2 is a forkhead transcription factor, essential for ovarian function, whose mutations are responsible for the blepharophimosis syndrome, characterized by craniofacial defects, often associated with premature ovarian failure. (nih.gov)
- Expansion of a polyalanine repeat region and other mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. (genecards.org)
- also known as blepharophimosis syndrome. (abcam.com)
- These conditions include blepharophimosis syndrome, Down syndrome, and ichthyosis. (ahealthyme.com)
- Mutations in this gene are a cause of blepharophimosis syndrome and premature ovarian failure 3. (cancerindex.org)
- The most prominent symptoms of BPES are horizontally narrow eyes (blepharophimosis), drooping eyelids (ptosis) and a fold of skin running from the side of the nose to the lower eyelid (epicanthus inversus). (wikipedia.org)
- Though BPES can be suggested by the presence of blepharophimosis, ptosis and/or epicanthus inversus, it can only be definitively diagnosed by genetic testing. (wikipedia.org)
- Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot open as far as usual and permanently cover part of the eyes. (wikipedia.org)
- In addition, the space between the upper and lower eyelids may be unusually narrow (blepharophimosis). (rarediseases.org)
- Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. (uniprot.org)
- Lateral displacement of the puncta may occur in some congenital syndromes, such as blepharophimosis. (medscape.com)
- Blepharophimosis is a rare congenital anomaly of the palpebral fissure which is often associated with mental retardation and additional malformations. (uzh.ch)
- Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature , peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). (nih.gov)
- Associated with the extension: blepharophimosis, enophthalmos and KCS predominated in dcSS with Schirmer test positive in 52.4%, mild dry eye highlighted in both groups. (scirp.org)
- Blepharophimosis is a rare disorder that is either congenital or acquired (for example, from scar contracture or aging). (alpfmedical.info)
- Blepharophimosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
- This paper reviews the chromosomal aberrations associated with BMR (blepharophimosis mental retardation) phenotypes. (uzh.ch)
- We found significant association between blepharophimosis and moderate-severe mRSS. (scirp.org)
- Blepharophimosis and its association with female infertility. (bmj.com)
- Can you access healthcare professionals in your community to manage Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome Type 2? (dovemed.com)
- After blepharophimosis surgery which included silicon slings being implanted to correct ptosis her eyes remain open while sleeping. (healthtap.com)
- These changes are complex and have been described as ptosis, blepharophimosis, and blepharospasm. (elsevier.com)
- It turns out he was born without eyelid muscles and has a much narrower eye opening due to Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES), a rare genetic mutation that affects one in 50,000 people. (medium.com)