The abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (Dorland, 27th ed)
Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Each of the upper and lower folds of SKIN which cover the EYE when closed.
Congenital structural abnormalities of the skin.
A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)
A characteristic symptom complex.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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)
A subclass of winged helix DNA-binding proteins that share homology with their founding member fork head protein, Drosophila.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.
The original member of the family of endothelial cell growth factors referred to as VASCULAR ENDOTHELIAL GROWTH FACTORS. Vascular endothelial growth factor-A was originally isolated from tumor cells and referred to as "tumor angiogenesis factor" and "vascular permeability factor". Although expressed at high levels in certain tumor-derived cells it is produced by a wide variety of cell types. In addition to stimulating vascular growth and vascular permeability it may play a role in stimulating VASODILATION via NITRIC OXIDE-dependent pathways. Alternative splicing of the mRNA for vascular endothelial growth factor A results in several isoforms of the protein being produced.
The administration of substances into the VITREOUS BODY of the eye with a hypodermic syringe.
Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)
A surgical specialty concerned with the structure and function of the eye and the medical and surgical treatment of its defects and diseases.
Central retinal vein and its tributaries. It runs a short course within the optic nerve and then leaves and empties into the superior ophthalmic vein or cavernous sinus.
Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.

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)[84]/45, XY,-14[10]/46, XY, dic r(14)[6]. 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 is a medical term that refers to the abnormal drooping or narrowing of the eyelid openings (palpebral fissures) due to tightening or shortening of the muscles or tendons that control eyelid movement. This condition can affect one or both eyes and may be present at birth (congenital) or acquired later in life due to various causes such as aging, nerve damage, or certain medical conditions like thyroid eye disease.

Blepharophimosis can cause various symptoms, including difficulty in fully opening the eyes, blurred vision, and irritation of the eyes due to exposure to air, light, or foreign particles. In severe cases, it may also lead to corneal damage or visual impairment if left untreated. Treatment options for blepharophimosis depend on the underlying cause and severity of the condition and may include medications, surgery, or a combination of both.

Blepharoptosis is a medical term that refers to the drooping or falling of the upper eyelid. It is usually caused by weakness or paralysis of the muscle that raises the eyelid, known as the levator palpebrae superioris. This condition can be present at birth or acquired later in life due to various factors such as aging, nerve damage, eye surgery complications, or certain medical conditions like myasthenia gravis or brain tumors. Blepharoptosis may obstruct vision and cause difficulty with daily activities, and treatment options include eyedrops, eye patches, or surgical correction.

Eyelids are the thin folds of skin that cover and protect the front surface (cornea) of the eye when closed. They are composed of several layers, including the skin, muscle, connective tissue, and a mucous membrane called the conjunctiva. The upper and lower eyelids meet at the outer corner of the eye (lateral canthus) and the inner corner of the eye (medial canthus).

The main function of the eyelids is to protect the eye from foreign particles, light, and trauma. They also help to distribute tears evenly over the surface of the eye through blinking, which helps to keep the eye moist and healthy. Additionally, the eyelids play a role in facial expressions and non-verbal communication.

Skin abnormalities refer to any changes in the skin that deviate from its normal structure, function, or color. These can manifest as various conditions such as lesions, growths, discolorations, or textural alterations. Examples include moles, freckles, birthmarks, rashes, hives, acne, eczema, psoriasis, rosacea, skin cancer, and many others. Some skin abnormalities may be harmless and require no treatment, while others might indicate an underlying medical condition that requires further evaluation and management.

Microstomia is a medical term that refers to an abnormally small or narrow opening of the mouth. This condition can result from various causes, including congenital disorders, surgical procedures, or neuromuscular diseases. Microstomia can lead to difficulties with speaking, eating, oral hygiene, and dental care. Treatment options may include physical therapy, surgery, or the use of specialized medical devices to help widen the mouth opening.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Human chromosome pair 3 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. Chromosomes are made up of DNA, which contains the instructions for the development and function of all living organisms.

Human chromosomes are numbered from 1 to 22, with an additional two sex chromosomes (X and Y) that determine biological sex. Chromosome pair 3 is one of the autosomal pairs, meaning it contains genes that are not related to sex determination. Each member of chromosome pair 3 is identical in size and shape and contains a single long DNA molecule that is coiled tightly around histone proteins to form a compact structure.

Chromosome pair 3 is associated with several genetic disorders, including Waardenburg syndrome, which affects pigmentation and hearing; Marfan syndrome, which affects the connective tissue; and some forms of retinoblastoma, a rare eye cancer that typically affects young children.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Forkhead transcription factors (FOX) are a family of proteins that play crucial roles in the regulation of gene expression through the process of binding to specific DNA sequences, thereby controlling various biological processes such as cell growth, differentiation, and apoptosis. These proteins are characterized by a conserved DNA-binding domain, known as the forkhead box or FOX domain, which adopts a winged helix structure that recognizes and binds to the consensus sequence 5'-(G/A)(T/C)AA(C/A)A-3'.

The FOX family is further divided into subfamilies based on the structure of their DNA-binding domains, with each subfamily having distinct functions. For example, FOXP proteins are involved in brain development and function, while FOXO proteins play a key role in regulating cellular responses to stress and metabolism. Dysregulation of forkhead transcription factors has been implicated in various diseases, including cancer, diabetes, and neurodegenerative disorders.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Retinal vein occlusion (RVO) is a medical condition that occurs when one of the retinal veins, which drains blood from the retina, becomes blocked by a blood clot or atherosclerotic plaque. This blockage can cause hemorrhages, fluid accumulation, and damage to the retinal tissue, leading to vision loss.

There are two types of RVO: branch retinal vein occlusion (BRVO) and central retinal vein occlusion (CRVO). BRVO affects a smaller branch retinal vein, while CRVO affects the main retinal vein. CRVO is generally associated with more severe vision loss than BRVO.

Risk factors for RVO include hypertension, diabetes, high cholesterol levels, smoking, and glaucoma. Age is also a significant risk factor, as RVO becomes more common with increasing age. Treatment options for RVO may include controlling underlying medical conditions, laser therapy, intravitreal injections of anti-VEGF agents or steroids, and surgery in some cases.

Vascular Endothelial Growth Factor A (VEGFA) is a specific isoform of the vascular endothelial growth factor (VEGF) family. It is a well-characterized signaling protein that plays a crucial role in angiogenesis, the process of new blood vessel formation from pre-existing vessels. VEGFA stimulates the proliferation and migration of endothelial cells, which line the interior surface of blood vessels, thereby contributing to the growth and development of new vasculature. This protein is essential for physiological processes such as embryonic development and wound healing, but it has also been implicated in various pathological conditions, including cancer, age-related macular degeneration, and diabetic retinopathy. The regulation of VEGFA expression and activity is critical to maintaining proper vascular function and homeostasis.

An intravitreal injection is a medical procedure in which medication is delivered directly into the vitreous cavity of the eye, which is the clear, gel-like substance that fills the space between the lens and the retina. This type of injection is typically used to treat various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusion, and uveitis. The medication administered in intravitreal injections can help to reduce inflammation, inhibit the growth of new blood vessels, or prevent the formation of abnormal blood vessels in the eye.

Intravitreal injections are usually performed in an outpatient setting, and the procedure typically takes only a few minutes. Before the injection, the eye is numbed with anesthetic drops to minimize discomfort. The medication is then injected into the vitreous cavity using a small needle. After the injection, patients may experience some mild discomfort or a scratchy sensation in the eye, but this usually resolves within a few hours.

While intravitreal injections are generally safe, there are some potential risks and complications associated with the procedure, including infection, bleeding, retinal detachment, and increased intraocular pressure. Patients who undergo intravitreal injections should be closely monitored by their eye care provider to ensure that any complications are promptly identified and treated.

Macular edema is a medical condition characterized by the accumulation of fluid in the macula, a small area in the center of the retina responsible for sharp, detailed vision. This buildup of fluid causes the macula to thicken and swell, which can distort central vision and lead to vision loss if not treated promptly. Macular edema is often a complication of other eye conditions such as diabetic retinopathy, age-related macular degeneration, retinal vein occlusion, or uveitis. It's important to note that while macular edema can affect anyone, it is more common in people with certain medical conditions like diabetes.

Ophthalmology is a branch of medicine that deals with the diagnosis, treatment, and prevention of diseases and disorders of the eye and visual system. It is a surgical specialty, and ophthalmologists are medical doctors who complete additional years of training to become experts in eye care. They are qualified to perform eye exams, diagnose and treat eye diseases, prescribe glasses and contact lenses, and perform eye surgery. Some subspecialties within ophthalmology include cornea and external disease, glaucoma, neuro-ophthalmology, pediatric ophthalmology, retina and vitreous, and oculoplastics.

A Retinal Vein is a vessel that carries oxygen-depleted blood away from the retina, a light-sensitive layer at the back of the eye. The retinal veins originate from a network of smaller vessels called venules and ultimately merge to form the central retinal vein, which exits the eye through the optic nerve.

Retinal veins are crucial for maintaining the health and function of the retina, as they facilitate the removal of waste products and help regulate the ocular environment. However, they can also be susceptible to various pathological conditions such as retinal vein occlusions, which can lead to vision loss or damage to the eye.

Cytokines are a broad and diverse category of small signaling proteins that are secreted by various cells, including immune cells, in response to different stimuli. They play crucial roles in regulating the immune response, inflammation, hematopoiesis, and cellular communication.

Cytokines mediate their effects by binding to specific receptors on the surface of target cells, which triggers intracellular signaling pathways that ultimately result in changes in gene expression, cell behavior, and function. Some key functions of cytokines include:

1. Regulating the activation, differentiation, and proliferation of immune cells such as T cells, B cells, natural killer (NK) cells, and macrophages.
2. Coordinating the inflammatory response by recruiting immune cells to sites of infection or tissue damage and modulating their effector functions.
3. Regulating hematopoiesis, the process of blood cell formation in the bone marrow, by controlling the proliferation, differentiation, and survival of hematopoietic stem and progenitor cells.
4. Modulating the development and function of the nervous system, including neuroinflammation, neuroprotection, and neuroregeneration.

Cytokines can be classified into several categories based on their structure, function, or cellular origin. Some common types of cytokines include interleukins (ILs), interferons (IFNs), tumor necrosis factors (TNFs), chemokines, colony-stimulating factors (CSFs), and transforming growth factors (TGFs). Dysregulation of cytokine production and signaling has been implicated in various pathological conditions, such as autoimmune diseases, chronic inflammation, cancer, and neurodegenerative disorders.

... 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 ...
Also known Blepharophimosis-intellectual disability syndrome, Ohdo type, it is a very rare type of BIDS that is characterized ... Also known as Blepharophimosis-intellectual disability syndrome, SBBYS type, it is a very rare autosomal dominant type of BIDS ... Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by ... "Orphanet: Blepharophimosis intellectual disability syndrome". www.orpha.net. Retrieved 2022-06-01. RESERVED, INSERM US14-- ALL ...
... (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 ...
"Blepharophimosis with ptosis, syndactyly, and short stature". "Blepharophimosis with ptosis, syndactyly, and short stature , ... Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is a very rare genetic and congenital disorder which is ... "Orphanet: Blepharophimosis ptosis esotropia syndactyly short stature syndrome". www.orpha.net. Retrieved 2022-05-03. "OMIM ... cite web}}: Missing or empty ,title= (help) "Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome". DoveMed. ...
"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 ...
"Orphanet: Blepharophimosis intellectual disability syndrome, SBBYS type". www.orpha.net. Retrieved 2022-03-24. "OHDO SYNDROME, ... 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 ... The diagnosis of Ohdo Syndrome, SBBYS variant is based on: Mask-like faces Blepharophimosis Ptosis Global development delay/ ...
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, ...
Apraxia of lid opening Blepharophimosis Mark W. Leitman. "External structures". Manual for Eye Examination (9 ed.). Wiley ... simple congenital ptosis and blepharophimosis syndrome. Aponeurotic ptosis, which may be involutional or postoperative. ...
... must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, ... Symblepharon Blepharophimosis Scott R. Lambert, Christopher J. Lyons. "Management of lid conditions". Taylor and Hoyt's ...
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 ( ...
... , also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary ... "OMIM Entry - 264475 - PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES". www.omim.org. Retrieved ... "Pseudopapilledema blepharophimosis hand anomalies - About the Disease - Genetic and Rare Diseases Information Center". ...
"Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p". Human Molecular Genetics. 5 (12): 2049-54. ...
"Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome". American Journal of ...
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 ...
FOXL2 mutation can cause Blepharophimosis, ptosis, epicanthus inversus syndrome, which affects the eyes at the same time. FSH ...
... hypertonia and blepharophimosis". European Journal of Medical Genetics. 52 (2-3): 123-7. doi:10.1016/j.ejmg.2009.03.012. PMC ...
The first case of this was in 1966 a female infant was diagnosed with blepharophimosis, joint contractures, arachnodactyly and ... 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 ...
... in Indian Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) patients". Br J Ophthalmol. 95 (6): 881-6. doi:10.1136/ ...
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 ...
Leal, G. F.; Silva, E. O.; Duarte, A. R.; Campos, J. F. (Apr 2008). "Blepharophimosis, blepharoptosis, defects of the anterior ...
Moon was born with the craniofacial disfigurement blepharophimosis, and as a result she began her own charity, Truly Beauty's, ...
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 ...
... symptoms Autism spectrum disorders Blepharophimosis Caries Clinodactyly Constipation Delayed tooth eruption Depression Chronic ...
... , also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely ...
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 (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. ...
... J Genet. 2007 Aug;86(2):165-8. doi ...
Learn about diagnosis and specialist referrals for Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. ... Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome. Other Names: Frydman-Cohen-Karmon syndromeFrydman-Cohen- ... Members of the medical team for Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome may include:. Primary care ...
FOXL2 - blepharophimosis, epicanthus inversus, and ptosis This test is available for the following conditions: ... FOXL2 - blepharophimosis, epicanthus inversus, and ptosis Turnaround time. Complete analysis: 8 weeks / Targeted analysis: 4 ... Conditions , Multiple congenital anomalies (MCA) , Blepharophimosis, epicantus inversus and ptosis. This product is also part ...
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), also called ... blepharophimosis (profound shortening of the horizontal, and narrowing of the vertical, palpebral fissures) ... blepharophimosis syndrome, is typically autosomal dominant in inheritance, although sporadic mutations can occur. Classic ...
A novel Polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) ... A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis-ptosis- ... Functional study on a novel missense mutation of the transcription factor FOXL2 causes blepharophimosis-ptosis-epicanthus ... 7. Kim JH, Bae J. Differential apoptotic and proliferative activities of wild-type FOXL2 and blepharophimosis-ptosis-epicanthus ...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. Mutations in the forkhead box ... From: Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome ...
Blepharophimosis ptosis syndrome. *. The last major subgroup that presents some difficulty in management is the autosomal ... As a rule, the levators of patients with absent levator function, severe bilateral congenital ptosis, and blepharophimosis ... Canthoplasties may be performed to improve the blepharophimosis. The considerable epicanthus is usually best left until early ... Patients with this syndrome have blepharophimosis, severe ptosis (usually with no levator function), epicanthus inversus, and ...
Blepharophimosis, ptosis, epicanthus inversus. what are they?. Dr. Soheila Rostamianswered. Specializes in Ophthalmology ...
Blepharophimosis, ptosis, and epicanthus inversus syndrome Hannah Verdin (UGent) , Charlotte Matton (UGent) and Elfride De ...
Can single stage surgery in Blepharophimosis syndrome be practiced universally?. Ruchi Goel, Amit Goel. July 2013, 61(7):368- ... Single-stage surgery for Blepharophimosis syndrome. Kasturi Bhattacharjee, Harsha Bhattacharjee, Ganesh Kuri, Zeenat Tajmin ...
A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger ...
Mutations in the FOXL2 gene cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic ...
Blepharophimosis - Xanthelasma - Trichiasis lacrimal system: Dacryoadenitis - Epiphora - Dacryocystitis ...
blepharophimosis-intellectual disability syndrome, SBBYS type Bloom syndrome Blue Diaper Syndrome blue drum syndrome + ...
However, recent studies have linked NIPBL to Cornelia de Lange syndrome and FOXL2 to blepharophimosis(Crisponi et al., 2001; ... Genes that are harbored within the human genomic region 3q22-26 were thought to be responsible for blepharophimosis, Cornelia ... The occurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome and Langer type of mesomelic dwarfism in the same ...
Congenital blepharophimosis associated with a unique generalized myopathy. Arch Ophthalmol. 1962 Jul. 68:52-7. [QxMD MEDLINE ... "Congenital blepharophimosis associated with a unique generalized myopathy." [1] In this paper, the authors presented the case ...
His eyes were painfully infected, and he also had a congenital eye condition called blepharophimosis. This disorder results in ...
Limited Ocular Motility in a Child With 3q23 Microdeletion (Blepharophimosis Syndrome Plus). J. Pediatr. Ophthalmol. Strabismus ...
... hypertonia and blepharophimosis. Eur J Med Genet 2009;52:123-7.doi:10.1016/j.ejmg.2009.03.012 ... ptosis and/or blepharophimosis, marked nasolabial folds, and a wide mouth with downturned corners and full red lips. The chin ... ptosis and/or blepharophimosis and a bulbous nasal tip. Behavioural problems and autistic features are common. Brain, cardiac ... blepharophimosis (17%), bent palpebral fissures (31%) and a short nose (71%) with a broad tip (79%). In most patients, the ...
Loffler K. A, Zarkower D, Koopman P (2003) Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome ...
Blepharophimosis syndrome. Muzaffer Çelik, Ufuk Emekli. DOI: 10.5606/fng.btd.2018.030 0 2333 ...
Blepharophimosis (BPES). Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot ... Blepharophimosis (BPES). Blepharophimosis is a congenital anomaly in which the eyelids are underdeveloped such that they cannot ...
Blepharophimosis (short horizontal palpebral fissures, i.e. decreased distance between the medial and lateral canthi) is ... Classic signs include: abnormal facial features (short horizontal palpebral fissure/blepharophimosis, thin vermillion border, ...
... some with congenital diaphramatic hernia and blepharophimosis-ptosis-epicanthis inversus. Rarely, others include palmoplantar ...
Blepharophimosis- ptosis- epichanthus inversus problem (BPES). A couple of models had been explained: inside style of We, POF ...
BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME. MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE. ...
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Amati P, Chomel JC, Nivelon-Chevalier ... Notch-FoxL2-α-SMA Axis in Eyelid Levator Muscle Development and Congenital Blepharophimosis. Liu CY. Wakayama Symposium: Notch ... The difficult nosology of blepharophimosis-mental retardation syndromes: Report on two siblings. Dentici ML, Mingarelli R, ... Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome. Duarte AF, Akaishi PM, de Molfetta GA, ...
... blepharophimosis syndrome, and Marcus Gunn jaw-winking syndrome. ...
  • 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), also called blepharophimosis syndrome, is typically autosomal dominant in inheritance, although sporadic mutations can occur. (aao.org)
  • Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disease with a low incidence rate. (ijbs.com)
  • As a rule, the levators of patients with absent levator function, severe bilateral congenital ptosis, and blepharophimosis syndrome are so abnormal that a frontalis sling is necessary to obtain even passable results. (medscape.com)
  • A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly. (medscape.com)
  • Mutations in the FOXL2 gene cause blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) types I and II, a rare genetic disorder. (nih.gov)
  • Results Patients show ID, SLI, neuromotor delay (NMD) and recurrent facial features including a high broad forehead, bent downslanting palpebral fissures, ptosis and/or blepharophimosis and a bulbous nasal tip. (bmj.com)
  • NR2F2 gene variants have been described in individuals with a 46,XX testicular / ovotesticular DSD phenotype associated with cardiac defects, some with congenital diaphramatic hernia and blepharophimosis-ptosis-epicanthis inversus. (orpha.net)
  • The effect of blepharophimosis, ptosis and epicanthus inversus is to reduce the size of the palpebral fissure by reducing it in both height and width. (bpes.org.uk)
  • Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis- intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. (wustl.edu)
  • Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is defined by a complex eyelid malformation characterized by four major features, all present at birth: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. (nih.gov)
  • Figure 10-1 Patient with blepharophimosisptosis-epicanthus inversus syndrome (blepharophimosis syndrome). (aao.org)
  • In August 2004 the BPES Family Network decided that the Yahoo group called Blepharophimosis facilitated a better communication option for those individuals and families affected by the disorder. (bpes.org.uk)
  • 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)
  • The first described cases of SJS were reported in 1962 by Oscar Schwartz and Robert S. Jampel in the Archives of Ophthalmology in an article titled "Congenital blepharophimosis associated with a unique generalized myopathy. (medscape.com)
  • His eyes were painfully infected, and he also had a congenital eye condition called blepharophimosis. (lovewithoutboundaries.com)
  • Limited Ocular Motility in a Child With 3q23 Microdeletion (Blepharophimosis Syndrome Plus). (uni-koeln.de)
  • Nablus mask-like facial syndrome (NMLFS) is a rare entity defined by distinctive facial features, including blepharophimosis, tight-appearing glistening facial skin, an abnormal hair pattern with an upswept frontal hairline, sparse arched eyebrows, flat and broad nose, long philtrum, distinctive ears, and a happy demeanor (summary by Jain et al. (nih.gov)
  • This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. (cdc.gov)
  • Blepharophimosis (short horizontal palpebral fissures, i.e. decreased distance between the medial and lateral canthi) is commonly found and easy to measure [18] . (aao.org)
  • Classic signs include: abnormal facial features (short horizontal palpebral fissure/blepharophimosis, thin vermillion border, and smooth philtrum), growth retardation, and neurobehavioral impairment [2] . (aao.org)
  • Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)
  • Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. (nih.gov)
  • opthalmology'라는 용어를 도입한 Himly는 Ammon의 지도교수였고, Ammon 또한 epicanthus, epiblepharon, blepharophimosis, canthoplasty 등의 용어와 개념을 도입한 선구자 중 한 사람입니다. (magicapteuim.com)
  • These result in the typical facial dysmorphism and include hypertelorism, blepharoptosis, blepharophimosis, and highly arched eyebrows. (arizona.edu)
  • In 1947, Klein reported a case of a 10-year-old girl with deafmutism, partial albinism of the skin and hair, hypochromia iridis, blepharophimosis with hypertelorism and absence of the nasofrontal angle, hypertrichosis of the eyebrows, and multiple associated abnormalities (myo-osteo-articulare dysplasia). (medscape.com)
  • The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis , and highly arched eyebrows, which are present in 70 to 95% of cases. (symptoma.com)
  • 16. Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations. (nih.gov)
  • A rare developmental defect during embryogenesis characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly. (orpha.net)
  • Facial dysmorphism includes a mask-like and asymmetric face along with blepharophimosis, low-set ears, high arched or cleft palate, micrognathia, short neck, and decreased muscular bulk. (orpha.net)
  • The diagnosis of MWS is based on the minimal criteria (postnatal growth retardation, severe developmental retardation, multiple joint contractures, a 'mask-like' face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears and (kyphoscoliosis). (orpha.net)
  • 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)
  • The first described cases of SJS were reported in 1962 by Oscar Schwartz and Robert S. Jampel in the Archives of Ophthalmology in an article titled "Congenital blepharophimosis associated with a unique generalized myopathy. (medscape.com)
  • Based on this information, it is suggested that children with blepharophimosis be evaluated carefully for underlying conditions and that they be observed for developmental disabilities because of the frequent association. (nih.gov)