A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
A characteristic symptom complex.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
'Elastin' is a highly elastic protein in connective tissue that allows many tissues in the body to resume their shape after stretching or contracting, such as the skin, lungs, and blood vessels.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Serine protein kinases involved in the regulation of ACTIN polymerization and MICROTUBULE disassembly. Their activity is regulated by phosphorylation of a threonine residue within the activation loop by intracellular signaling kinases such as P21-ACTIVATED KINASES and by RHO KINASE.
A psychological theory based on dimensions or categories used by a given person in describing or explaining the personality and behavior of others or of himself. The basic idea is that different people will use consistently different categories. The theory was formulated in the fifties by George Kelly. Two tests devised by him are the role construct repertory test and the repertory grid test. (From Stuart Sutherland, The International Dictionary of Psychology, 1989)
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
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)
The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Time period from 1801 through 1900 of the common era.
Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body.
The ability to generate new ideas or images.
The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.
'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 type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
Time period from 1601 through 1700 of the common era.
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)
The part of the face above the eyes.
The part of the face that is below the eye and to the side of the nose and mouth.

Comparative mapping of the region of human chromosome 7 deleted in williams syndrome. (1/254)

Williams syndrome (WS) is a complex developmental disorder resulting from the deletion of a large (approximately 1.5-2 Mb) segment of human chromosome 7q11.23. Physical mapping studies have revealed that this deleted region, which contains a number of known genes, is flanked by several large, nearly identical blocks of DNA. The presence of such highly related DNA segments in close physical proximity to one another has hampered efforts to elucidate the precise long-range organization of this segment of chromosome 7. To gain insight about the structure and evolutionary origins of this important and complex genomic region, we have constructed a fully contiguous bacterial artificial chromosome (BAC) and P1-derived artificial chromosome (PAC) contig map encompassing the corresponding region on mouse chromosome 5. In contrast to the difficulties encountered in constructing a clone-based physical map of the human WS region, the BAC/PAC-based map of the mouse WS region was straightforward to construct, with no evidence of large duplicated segments, such as those encountered in the human WS region. To confirm this difference, representative human and mouse BACs were used as probes for performing fluorescence in situ hybridization (FISH) to metaphase and interphase chromosomes. Human BACs derived from the nonunique portion of the WS region hybridized to multiple, closely spaced regions on human chromosome 7q11.23. In contrast, corresponding mouse BACs hybridized to a single site on mouse chromosome 5. Furthermore, FISH analysis revealed the presence of duplicated segments within the WS region of various nonhuman primates (chimpanzee, gorilla, orangutan, and gibbon). Hybridization was also noted at the genomic locations corresponding to human chromosome 7p22 and 7q22 in human, chimpanzee, and gorilla, but not in the other animal species examined. Together, these results indicate that the WS region is associated with large, duplicated blocks of DNA on human chromosome 7q11.23 as well as the corresponding genomic regions of other nonhuman primates. However, such duplications are not present in the mouse.  (+info)

Williams-Beuren syndrome: genes and mechanisms. (2/254)

Williams-Beuren syndrome (WBS; OMIM 194050) is caused by heterozygous deletions of approximately 1.6 Mb of chromosomal sub-band 7q11.23. The deletions are rather uniform in size as they arise spontaneously by inter- or intrachromosomal crossover events within misaligned duplicated regions of high sequence identity that flank the typical deletion. This review will discuss the status of the molecular characterization of the deletion and flanking regions, the genes identified in the deletion region and their possible roles in generating the complex multi-system clinical phenotype.  (+info)

A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome. (3/254)

Williams-Beuren syndrome (WS) is a developmental disorder caused by a hemizygous microdeletion of approximately 1.4MB at chromosomal location 7q11.23. The transcription map of the WS critical region is not yet complete. We have isolated and characterised a 3.4 kb gene, GTF3, which occupies about 140 kb of the deleted region. Northern blot analysis showed that the gene is expressed in skeletal muscle and heart, and RT-PCR analysis showed expression in a range of adult tissues with stronger expression in foetal tissues. Part of the conceptual GTF3 protein sequence is almost identical to a recently reported slow muscle-fibre enhancer binding protein MusTRD1, and shows significant homology to the 90 amino-acid putative helix-loop-helix repeat (HLH) domains of the transcription factor TFII-I (encoded for by the gene GTF2I). These genes may be members of a new family of transcription factors containing this HLH-like repeated motif. Both GTF3 and GTF2I map within the WS deleted region, with GTF2I being positioned distal to GTF3. GTF3 is deleted in patients with classic WS, but not in patients we have studied with partial deletions of the WS critical region who have only supravalvular aortic stenosis. A feature of WS is abnormal muscle fatiguability, and we suggest that haploinsufficiency of the GTF3 gene may be the cause of this.  (+info)

Second-order belief attribution in Williams syndrome: intact or impaired? (4/254)

Second-order mental state attribution in a group of children with Williams syndrome was investigated. The children were compared to age, IQ, and language-matched groups of children with Prader-Willi syndrome or nonspecific mental retardation. Participants were given two trials of a second-order reasoning task. No significant differences between the Williams syndrome and Prader-Willi or mentally retarded groups on any of the test questions were found. Results contrast with the view that individuals with Williams syndrome have an intact theory of mind and suggest that in their attributions of second-order mental states, children with Williams syndrome perform no better than do other groups of children with mental retardation.  (+info)

Cognitive modularity and genetic disorders. (5/254)

This study challenges the use of adult neuropsychological models for explaining developmental disorders of genetic origin. When uneven cognitive profiles are found in childhood or adulthood, it is assumed that such phenotypic outcomes characterize infant starting states, and it has been claimed that modules subserving these abilities start out either intact or impaired. Findings from two experiments with infants with Williams syndrome (a phenotype selected to bolster innate modularity claims) indicate a within-syndrome double dissociation: For numerosity judgments, they do well in infancy but poorly in adulthood, whereas for language, they perform poorly in infancy but well in adulthood. The theoretical and clinical implications of these results could lead to a shift in focus for studies of genetic disorders.  (+info)

A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23. (6/254)

Williams-Beuren syndrome (WBS) is a developmental disorder caused by haploinsufficiency for genes in a 2-cM region of chromosome band 7q11.23. With the exception of vascular stenoses due to deletion of the elastin gene, the various features of WBS have not yet been attributed to specific genes. Although >/=16 genes have been identified within the WBS deletion, completion of a physical map of the region has been difficult because of the large duplicated regions flanking the deletion. We present a physical map of the WBS deletion and flanking regions, based on assembly of a bacterial artificial chromosome/P1-derived artificial chromosome contig, analysis of high-throughput genome-sequence data, and long-range restriction mapping of genomic and cloned DNA by pulsed-field gel electrophoresis. Our map encompasses 3 Mb, including 1.6 Mb within the deletion. Two large duplicons, flanking the deletion, of >/=320 kb contain unique sequence elements from the internal border regions of the deletion, such as sequences from GTF2I (telomeric) and FKBP6 (centromeric). A third copy of this duplicon exists in inverted orientation distal to the telomeric flanking one. These duplicons show stronger sequence conservation with regard to each other than to the presumptive ancestral loci within the common deletion region. Sequence elements originating from beyond 7q11.23 are also present in these duplicons. Although the duplicons are not present in mice, the order of the single-copy genes in the conserved syntenic region of mouse chromosome 5 is inverted relative to the human map. A model is presented for a mechanism of WBS-deletion formation, based on the orientation of duplicons' components relative to each other and to the ancestral elements within the deletion region.  (+info)

Characterization and gene structure of a novel retinoblastoma-protein-associated protein similar to the transcription regulator TFII-I. (7/254)

Retinoblastoma protein (Rb) is an important regulator of vertebrate cell cycle and development. It functions through a direct interaction with protein factors involved in cell cycle progression and differentiation. In the present study we characterized a novel Rb-associated protein, Cream1, which bound to Rb specifically through a C-terminal region. Cream1 contained 959 amino acid residues and migrated as a protein of approx. 120 kDa on SDS/PAGE. It was a widely expressed nuclear protein with a nuclear localization signal resembling that of the large T antigen of simian virus 40. Its primary sequence was characteristic of five direct repeats that were similar to, but distinct from, those of TFII-I, a multifunctional transcription regulator. Three additional regions were also highly conserved in both proteins. Cream1 exhibited an activation activity that was attributed to its N-terminal portion when assayed in yeast. Its relationship with the muscle-enhancer-binding protein MusTRD1 further suggests a role in regulating gene expression. The structural gene, CREAM1, contained 27 exons and spanned more than 150 kb. It was located at human chromosome 7q11.23 in a region deleted for Williams' syndrome, a neurodevelopmental disease with multisystem abnormalities, implying its involvement in certain disorders. Taken together, our results suggest that Cream1 might serve as a positive transcription regulator under the control of Rb.  (+info)

A family of chromatin remodeling factors related to Williams syndrome transcription factor. (8/254)

Chromatin remodeling complexes have been implicated in the disruption or reformation of nucleosomal arrays resulting in modulation of transcription, DNA replication, and DNA repair. Here we report the isolation of WCRF, a new chromatin-remodeling complex from HeLa cells. WCRF is composed of two subunits, WCRF135, the human homolog of Drosophila ISWI, and WCRF180, a protein related to the Williams syndrome transcription factor. WCRF180 is a member of a family of proteins sharing a putative heterochromatin localization domain, a PHD finger, and a bromodomain, prevalent in factors involved in regulation of chromatin structure.  (+info)

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

Supravalvular Aortic Stenosis (SVAS) is a rare congenital heart defect that affects the narrowing of the aorta just above the aortic valve. This condition is caused by a genetic disorder that affects the development of the elastic fibers in the media layer of the artery.

In SVAS, the narrowing or obstruction can occur in various locations along the aorta and its major branches, leading to varying degrees of severity. The aortic valve itself is usually normal, but the narrowing can affect the blood flow from the heart to the rest of the body, causing the left ventricle to work harder and potentially leading to heart failure over time.

Symptoms of SVAS may include chest pain, shortness of breath, fatigue, and poor growth in children. The diagnosis is typically made through imaging tests such as echocardiography or cardiac catheterization. Treatment options for SVAS may include medication to manage symptoms, balloon dilation or surgical repair to widen the narrowed area, or in severe cases, heart transplantation.

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.

Human chromosome pair 7 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. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Elastin is a protein that provides elasticity to tissues and organs, allowing them to resume their shape after stretching or contracting. It is a major component of the extracellular matrix in many tissues, including the skin, lungs, blood vessels, and ligaments. Elastin fibers can stretch up to 1.5 times their original length and then return to their original shape due to the unique properties of this protein. The elastin molecule is made up of cross-linked chains of the protein tropoelastin, which are produced by cells called fibroblasts and then assembled into larger elastin fibers by enzymes called lysyl oxidases. Elastin has a very long half-life, with some estimates suggesting that it can remain in the body for up to 70 years or more.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

LIM kinases are a group of serine/threonine protein kinases that play important roles in various cellular processes, including actin dynamics, microtubule organization, and cell motility. They are named after their conserved N-terminal LIM domains, which are zinc-finger domains involved in protein-protein interactions.

LIM kinase 1 (LIMK1) and LIM kinase 2 (LIMK2) are the two main isoforms found in mammals. They are activated by upstream regulators such as Rho GTPases, PAK kinases, and ROCK kinases, which bind to and activate the LIM kinases in response to various cellular signals.

Once activated, LIM kinases phosphorylate and regulate the activity of cofilin, an actin-binding protein that severs and depolymerizes actin filaments. By inhibiting cofilin's activity, LIM kinases promote the stabilization and bundling of actin filaments, which is important for various cellular functions such as cell migration, cytokinesis, and neurite outgrowth.

Dysregulation of LIM kinases has been implicated in various diseases, including cancer, neurodegenerative disorders, and cardiovascular diseases. Therefore, understanding the regulation and function of LIM kinases is an important area of research with potential therapeutic implications.

Personal Construct Theory (PCT) is not a medical term per se, but rather a psychological theory developed by George Kelly in the 1950s. It is a theory of personality and psychotherapy that emphasizes an individual's unique way of construing or making sense of their experiences. According to PCT, people are active scientists who constantly test their assumptions about the world through their personal construct systems.

In medical settings, PCT may be used as a framework for understanding patients' perspectives and beliefs about their illnesses and treatments. This can help healthcare professionals tailor interventions to individual patients' needs and improve communication and collaboration between patients and healthcare providers. However, it is important to note that PCT is not a widely recognized or established medical concept, but rather a psychological theory that has been applied in various fields, including healthcare.

Nervous system malformations, also known as nervous system dysplasias or developmental anomalies, refer to structural abnormalities or defects in the development of the nervous system. These malformations can occur during fetal development and can affect various parts of the nervous system, including the brain, spinal cord, and peripheral nerves.

Nervous system malformations can result from genetic mutations, environmental factors, or a combination of both. They can range from mild to severe and may cause a wide variety of symptoms, depending on the specific type and location of the malformation. Some common examples of nervous system malformations include:

* Spina bifida: a defect in the closure of the spinal cord and surrounding bones, which can lead to neurological problems such as paralysis, bladder and bowel dysfunction, and hydrocephalus.
* Anencephaly: a severe malformation where the brain and skull do not develop properly, resulting in stillbirth or death shortly after birth.
* Chiari malformation: a structural defect in the cerebellum, the part of the brain that controls balance and coordination, which can cause headaches, neck pain, and difficulty swallowing.
* Microcephaly: a condition where the head is smaller than normal due to abnormal development of the brain, which can lead to intellectual disability and developmental delays.
* Hydrocephalus: a buildup of fluid in the brain that can cause pressure on the brain and lead to cognitive impairment, vision problems, and other neurological symptoms.

Treatment for nervous system malformations depends on the specific type and severity of the condition and may include surgery, medication, physical therapy, or a combination of these approaches.

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.

In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Cardiovascular abnormalities refer to structural or functional anomalies in the heart or blood vessels. These abnormalities can be present at birth (congenital) or acquired later in life. They can affect the heart's chambers, valves, walls, or blood vessels, leading to various complications such as heart failure, stroke, or even death if left untreated.

Examples of congenital cardiovascular abnormalities include:

1. Septal defects - holes in the walls separating the heart's chambers (atrial septal defect, ventricular septal defect)
2. Valvular stenosis or insufficiency - narrowing or leakage of the heart valves
3. Patent ductus arteriosus - a persistent opening between the aorta and pulmonary artery
4. Coarctation of the aorta - narrowing of the aorta
5. Tetralogy of Fallot - a combination of four heart defects, including ventricular septal defect, overriding aorta, pulmonary stenosis, and right ventricular hypertrophy

Examples of acquired cardiovascular abnormalities include:

1. Atherosclerosis - the buildup of plaque in the arteries, leading to narrowing or blockage
2. Cardiomyopathy - disease of the heart muscle, causing it to become enlarged, thickened, or stiffened
3. Hypertension - high blood pressure, which can damage the heart and blood vessels over time
4. Myocardial infarction (heart attack) - damage to the heart muscle due to blocked blood supply
5. Infective endocarditis - infection of the inner lining of the heart chambers and valves

These abnormalities can be diagnosed through various tests, such as echocardiography, electrocardiogram (ECG), stress testing, cardiac catheterization, or magnetic resonance imaging (MRI). Treatment options depend on the type and severity of the abnormality and may include medications, medical procedures, or surgery.

"History, 19th Century" is not a medical term or concept. It refers to the historical events, developments, and figures related to the 1800s in various fields, including politics, culture, science, and technology. However, if you are looking for medical advancements during the 19th century, here's a brief overview:

The 19th century was a period of significant progress in medicine, with numerous discoveries and innovations that shaped modern medical practices. Some notable developments include:

1. Edward Jenner's smallpox vaccine (1796): Although not strictly within the 19th century, Jenner's discovery laid the foundation for vaccination as a preventive measure against infectious diseases.
2. Germ theory of disease: The work of Louis Pasteur, Robert Koch, and others established that many diseases were caused by microorganisms, leading to the development of antiseptic practices and vaccines.
3. Anesthesia: In 1842, Crawford Long first used ether as an anesthetic during surgery, followed by the introduction of chloroform in 1847 by James Simpson.
4. Antisepsis and asepsis: Joseph Lister introduced antiseptic practices in surgery, significantly reducing postoperative infections. Later, the concept of asepsis (sterilization) was developed to prevent contamination during surgical procedures.
5. Microbiology: The development of techniques for culturing and staining bacteria allowed for better understanding and identification of pathogens.
6. Physiology: Claude Bernard's work on the regulation of internal body functions, or homeostasis, contributed significantly to our understanding of human physiology.
7. Neurology: Jean-Martin Charcot made significant contributions to the study of neurological disorders, including multiple sclerosis and Parkinson's disease.
8. Psychiatry: Sigmund Freud developed psychoanalysis, a new approach to understanding mental illnesses.
9. Public health: The 19th century saw the establishment of public health organizations and initiatives aimed at improving sanitation, water quality, and vaccination programs.
10. Medical education reforms: The Flexner Report in 1910 led to significant improvements in medical education standards and practices.

Perceptual disorders are conditions that affect the way a person perceives or interprets sensory information from their environment. These disorders can involve any of the senses, including sight, sound, touch, taste, and smell. They can cause a person to have difficulty recognizing, interpreting, or responding appropriately to sensory stimuli.

Perceptual disorders can result from damage to the brain or nervous system, such as from a head injury, stroke, or degenerative neurological condition. They can also be caused by certain mental health conditions, such as schizophrenia or severe depression.

Symptoms of perceptual disorders may include:

* Misinterpretations of sensory information, such as seeing things that are not there or hearing voices that are not present
* Difficulty recognizing familiar objects or people
* Problems with depth perception or spatial awareness
* Difficulty judging the size, shape, or distance of objects
* Trouble distinguishing between similar sounds or colors
* Impaired sense of smell or taste

Perceptual disorders can have a significant impact on a person's daily life and functioning. Treatment may involve medication, therapy, or rehabilitation to help the person better cope with their symptoms and improve their ability to interact with their environment.

Creativity is not a term that is typically defined in a medical context, as it is more commonly associated with the arts, humanities, and certain fields of psychology. However, creativity can be generally described as the ability to generate ideas, solutions, or expressions that are both original and valuable. It involves the use of imagination, innovation, and inventiveness, and often requires the ability to think outside of the box and make connections between seemingly unrelated concepts or ideas.

In a medical context, creativity may be discussed in relation to its potential impact on health outcomes, such as its role in promoting mental well-being, reducing stress, and enhancing cognitive function. Some research has suggested that engaging in creative activities can have positive effects on physical health as well, such as by boosting the immune system and reducing the risk of chronic diseases.

It's worth noting that while creativity is often associated with artistic or intellectual pursuits, it can manifest in many different forms and contexts, from problem-solving and innovation in the workplace to everyday decision-making and social interactions.

I must clarify that I cannot provide a "medical definition" of intelligence, as intelligence is not a concept that is typically defined within the field of medicine. Intelligence is a term used to describe the ability to learn, understand, and make judgments or decisions based on reason, experience, and information. It is often measured through various cognitive abilities such as problem-solving, critical thinking, creativity, and knowledge acquisition.

The concept of intelligence is studied in many fields, including psychology, neuroscience, and education. In medicine, healthcare professionals may assess a person's cognitive abilities to better understand their health status or develop treatment plans. However, there is no specific "medical definition" for intelligence. Instead, it is a multifaceted concept that can be influenced by various genetic, environmental, and experiential factors.

'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.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

I believe there might be a bit of confusion in your question. A "history" in medical terms usually refers to the detailed account of a patient's symptoms, illnesses, and treatments received, which is used by healthcare professionals to understand their health status and provide appropriate care. It is not typically associated with a specific century like the 17th century.

If you are asking for information about the medical practices or significant developments in the field of medicine during the 17th century, I would be happy to provide some insight into that. The 17th century was a time of great advancement in medical knowledge and practice, with several key figures and events shaping the course of medical history.

Some notable developments in medicine during the 17th century include:

1. William Harvey's discovery of the circulation of blood (1628): English physician William Harvey published his groundbreaking work "De Motu Cordis" (On the Motion of the Heart and Blood), which described the circulatory system and the role of the heart in pumping blood throughout the body. This discovery fundamentally changed our understanding of human anatomy and physiology.
2. The development of the microscope (1600s): The invention of the microscope allowed scientists to observe structures that were previously invisible to the naked eye, such as cells, bacteria, and other microorganisms. This technology opened up new avenues of research in anatomy, physiology, and pathology, paving the way for modern medical science.
3. The establishment of the Royal Society (1660): The Royal Society, a prominent scientific organization in the UK, was founded during this century to promote scientific inquiry and share knowledge among its members. Many notable scientists and physicians, including Robert Hooke and Christopher Wren, were part of the society and contributed significantly to the advancement of medical science.
4. The Smallpox Vaccination (1796): Although this occurred near the end of the 18th century, the groundwork for Edward Jenner's smallpox vaccine was laid during the 17th century. Smallpox was a significant public health issue during this time, and Jenner's development of an effective vaccine marked a major milestone in the history of medicine and public health.
5. The work of Sylvius de le Boe (1614-1672): A Dutch physician and scientist, Sylvius de le Boe made significant contributions to our understanding of human anatomy and physiology. He was the first to describe the circulation of blood in the lungs and identified the role of the liver in metabolism.

These are just a few examples of the many advancements that took place during the 17th century, shaping the course of medical history and laying the foundation for modern medicine.

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.

A forehead, in medical terms, refers to the portion of the human skull that lies immediately above the eyes and serves as an attachment site for the frontal bone. It is a common area for the examination of various clinical signs, such as assessing the level of consciousness (by checking if the patient's eyebrows or eyelids twitch in response to a light touch) or looking for signs of increased intracranial pressure (such as bulging fontanelles in infants). Additionally, the forehead is often used as a site for non-invasive procedures like Botox injections.

A "cheek" is the fleshy, muscular area of the face that forms the side of the face below the eye and above the jaw. It contains the buccinator muscle, which helps with chewing by moving food to the back teeth for grinding and also assists in speaking and forming facial expressions. The cheek also contains several sensory receptors that allow us to perceive touch, temperature, and pain in this area of the face. Additionally, there is a mucous membrane lining inside the mouth cavity called the buccal mucosa which covers the inner surface of the cheek.

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  • Williams syndrome is also noteworthy for exhibiting abnormalities in the parietal-dorsal areas of the neocortex, but not the ventral areas. (wikipedia.org)
  • Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. (medlineplus.gov)
  • Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use. (uams.edu)
  • People with Williams syndrome tend to have cardiovascular disease, connective tissue changes, and endocrine abnormalities. (circat.cat)
  • Type 1 Pfeiffer syndrome is characterized by premature fusion of the skull, finger and toe abnormalities, and sunken cheekbones. (medicalnewstoday.com)
  • A diagnosis of Pfeiffer syndrome is made using imaging studies and a physical exam to confirm the presence of premature bone fusions in the skull, fused elbow and knee joints, and finger and toe abnormalities. (medicalnewstoday.com)
  • Two neurodevelopmental disorders, Williams syndrome (WS) and autism, are both commonly described as having opposite social profiles: social avoidance in autism vs hypersociability in individuals with WS. (medscape.com)
  • Williams syndrome (WS) and autism (or, generally, autism spectrum disorders, ASD) are both neurodevelopmental disorders associated with atypical social and communication profiles. (medscape.com)
  • Studies that have considered this relation for either typically-developing (TD) children or children with developmental or intellectual disability (DD/ID) (e.g., autism spectrum disorder, fragile X syndrome) have shown that children whose mothers have a more sensitive/responsive interaction style have significantly larger expressive vocabularies than do children whose parents have a less sensitive/responsive style (e.g. (louisville.edu)
  • Autism, Williams Syndrome). (plymouth.ac.uk)
  • In this study we examine the nature and correlates of psychopathology in three syndromes that are broadly comparable for degree of ID: Williams (WS), fragile X (FXS) and Prader-Willi syndromes (PWS). (springer.com)
  • Both within and between syndromes, identification of correlates or risk markers could provide information on putative causal pathways of psychopathology and may have implications for early intervention. (springer.com)
  • Ventricular Hypertrophy on Electrocardiogram Correlates with Obstructive Lesion Severity in Williams Syndrome. (uams.edu)
  • Molecular and phenotypic characterization of atypical Williams-Beuren syndrome. (medscape.com)
  • Individuals with Williams syndrome have an increased risk of complications with the use of anesthesia. (medlineplus.gov)
  • The WSA has always strived to provide current, relative, and quality information for individuals with Williams syndrome and their families. (williams-syndrome.org)
  • Nearly all clinically diagnosed individuals with Williams syndrome lack precisely the same set of genes, with breakpoints in chromosome band 7q11.23 (refs 1-5). (ca.gov)
  • Berman and her colleagues used functional MRI to take pictures of brain regions in individuals with Williams syndrome (WS), caused by deletion of the 7q11.23 locus in one of the two chromosome 7s (hemi-deletion). (nih.gov)
  • Despite the challenges that come with this condition, many individuals with Williams Syndrome have accomplished great things in various fields. (overundergoals.org)
  • This article will highlight some of the most notable individuals with Williams Syndrome and their unique accomplishments. (overundergoals.org)
  • How can I support individuals with Williams Syndrome? (overundergoals.org)
  • You can support individuals with Williams Syndrome by raising awareness about the condition, volunteering with organizations that serve people with disabilities, and advocating for policies that promote inclusivity and accessibility. (overundergoals.org)
  • In conclusion, our data represent the largest collection of individuals with Williams syndrome who underwent cardiac catheterization and/or operation. (umn.edu)
  • The Williams Syndrome Association's (WSA) mission is to advance the interests of all individuals with Williams syndrome throughout their lifespan by providing programming and resources, supporting research, promoting partnerships and connections, and ensuring that the infrastructure of the organization has the capacity to lead our community toward its goals. (littlestwarrior.com)
  • Most individuals with Williams syndrome will be small at birth and have feeding difficulties as infants. (williamssyndrome.org.au)
  • Individuals with Williams syndrome have spatial integration difficulties that can make mathematics and related tasks almost impossible. (williamssyndrome.org.au)
  • Individuals with Williams syndrome share the same genetic risk factor for cognitive-behavioral dysfunction utilizing brain imaging to elucidate endophenotype provides us with an unprecendented opportunity to study gene, brain and behavior relationships especially those related to social cognition. (elsevierpure.com)
  • Individuals with Williams syndrome (WS) often experience significant anxiety. (reading.ac.uk)
  • Hemideletion (yielding one copy of affected genes) or duplication (three gene copies) of ~25 genes at chromosomal location 7q11.23 causes Williams syndrome (WS) or 7q11.23 Duplication syndrome (DUP7), respectively. (nih.gov)
  • The diagnosis of 7q11.23 duplication syndrome is established by detection of a recurrent 1.5- to 1.8-Mb heterozygous duplication of the Williams-Beuren syndrome critical region . (nih.gov)
  • 7q11.23 duplication syndrome is transmitted in an autosomal dominant manner. (nih.gov)
  • abstract = "Williams syndrome (WS) is considered one of the rare or uncommon diseases. (unab.cl)
  • abstract = "Background: Hyperacusis and phonophobia are common, debilitating symptoms in Williams syndrome (WS), yet little is known about their underlying audiologic and neurologic processes. (haifa.ac.il)
  • Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome. (medscape.com)
  • Peri-procedural risk stratification and management of patients with Williams syndrome. (uams.edu)
  • The most common cardiovascular lesions and the mortality rate in patients with Williams syndrome were examined. (umn.edu)
  • Williams syndrome is a genetic condition that affects many parts of the body. (nih.gov)
  • Williams syndrome (WS), also Williams-Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. (wikipedia.org)
  • Williams syndrome affects between one in 20,000 and one in 7,500 people at birth. (wikipedia.org)
  • Williams syndrome is a developmental disorder that affects many parts of the body. (medlineplus.gov)
  • Williams syndrome affects an estimated 1 in 7,500 to 18,000 people. (medlineplus.gov)
  • Yes, Williams Syndrome is a rare genetic disorder that affects about 1 in 10,000 people worldwide. (overundergoals.org)
  • Williams Syndrome is a rare genetic condition that affects many aspects of an individual's life. (overundergoals.org)
  • Williams syndrome is a rare genomic disorder that affects a kid's growth, physical appearance, and cognitive development. (longdom.org)
  • Those compartments are subject to something known as exertional compartment syndrome-a musculoskeletal problem that affects both muscle and nerves that is brought on by exercise or heavy labor. (baltimoreperipheralnervepain.com)
  • It's an exceptionally intricate genetic syndrome that affects so many things about him. (mercedesmyardley.com)
  • According to American Journal of Medical Genetics , Pfeiffer syndrome affects about 1 in 120,000 births. (medicalnewstoday.com)
  • Studies suggest that deletion of GTF2I , GTF2IRD1 , LIMK1 , and perhaps other genes may help explain the characteristic difficulties with visual-spatial tasks, unique behavioral characteristics, and other cognitive difficulties seen in people with Williams syndrome. (medlineplus.gov)
  • If a person suffers the small genetic accident that creates Williams syndrome, he'll live with not only some fairly conventional cognitive deficits, like trouble with space and numbers, but also a strange set of traits that researchers call the Williams social phenotype or, less formally, the "Williams personality": a love of company and conversation combined, often awkwardly, with a poor understanding of social dynamics and a lack of social inhibition. (scienceblogs.com)
  • Williams syndrome is a genetic neurodevelopmental disorder characterized by an uncommon hypersociability and a mosaic of retained and compromised linguistic and cognitive abilities. (ca.gov)
  • Williams Syndrome is a neurodevelopmental disorder affecting various aspects of an individual's life, including physical and cognitive development. (overundergoals.org)
  • Williams Syndrome is caused by deleting of genetic material on chromosome 7, leading to various physical and cognitive symptoms. (overundergoals.org)
  • Williams syndrome, is a multisystem neurodevelopmental disorder characterized by subtle, distinctive facial features and intellectual disabilities, including a characteristic cognitive behavioral profile. (unboundmedicine.com)
  • Because of its unique behavioral phenotypic features which includes 'hypersociability', Williams syndrome has gained popularity among social cognitive neuroscientists. (elsevierpure.com)
  • Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. (medscape.com)
  • Regardless of age, language or cultural background, Williams syndrome social phenotype is shaped both by genes and interactions with the environment. (sciencedaily.com)
  • Using an individual with atypical Williams syndrome, we narrowed this cellular phenotype to a single gene candidate, frizzled 9 (FZD9). (ca.gov)
  • Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. (wikipedia.org)
  • ELN , GTF2I , GTF2IRD1 , and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. (medlineplus.gov)
  • Virtually everyone with Williams syndrome has exactly the same set of genes with one strand missing, a small set of genes on chromosome 7, but some rare cases with different size deletions sparked the interest of researchers. (sciencedaily.com)
  • This finding convinced Korenberg and her collaborators that this short stretch of DNA may contain the gene (or genes) responsible for the hypersociability among children with Willliams syndrome. (sciencedaily.com)
  • Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7. (adam.com)
  • Williams Syndrome (WS) is caused by a deletion of approximately 26 genes on a sole chromosome. (themindbodyshift.com)
  • The cause of Pfeiffer syndrome is a mutation of the genes responsible for prenatal bone development. (medicalnewstoday.com)
  • Williams syndrome (WS) is a rare genetic disorder. (nih.gov)
  • Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. (medscape.com)
  • Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder. (medscape.com)
  • This model of human induced pluripotent stem cells fills the current knowledge gap in the cellular biology of Williams syndrome and could lead to further insights into the molecular mechanism underlying the disorder and the human social brain. (ca.gov)
  • Williams syndrome is a rare disorder that can lead to problems with development. (adam.com)
  • In each of these syndromes there is a heightened risk of developing psychopathology although the types of disorder differ between the groups. (springer.com)
  • Tori, a veteran at Berkshire Hills told us that 'Williams Syndrome is a genetic disorder. (berkshirehills.org)
  • Williams Syndrome (WS) is a rare genetic disorder caused by deleting a small piece of chromosome 7. (overundergoals.org)
  • Williams syndrome is a multifaceted disorder that includes a spectrum of cardiovascular anomalies. (umn.edu)
  • Yet for those born with the rare genetic disorder, Williams Syndrome, this is not the material for self-deprecating, bitingly humorous blogs or heartbreak-with-a-happy-ending Hollywood movies. (themindbodyshift.com)
  • Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. (medlineplus.gov)
  • People with Williams Syndrome typically have distinctive facial features, including a small upturned nose, full lips, and wide mouth. (overundergoals.org)
  • Common symptoms of Williams Syndrome include distinctive facial features, developmental delays, learning difficulties, and cardiovascular issues. (overundergoals.org)
  • A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. (medlineplus.gov)
  • Researchers believe that the presence or absence of the NCF1 gene on chromosome 7 impacts the risk of developing hypertension in people with Williams syndrome. (medlineplus.gov)
  • Williams syndrome deficits in visual spatial processing linked to GTF2IRD1 and GTF2I on chromosome 7q11.23. (medscape.com)
  • Persons who have Williams syndrome are missing genetic material from chromosome 7, containing the gene elastin. (longdom.org)
  • The most common symptoms of Williams syndrome are heart defects and unusual facial features. (wikipedia.org)
  • In WS, a deleted portion of the patient's chromosomes impacts the protein elastin, an important component of the elastic fibers in many organs, which leads to the distinct characteristics and problems attached to the syndrome, including facial features and hoarse voice. (healthychildren.org)
  • Most young children with Williams syndrome are described as having similar facial features. (williamssyndrome.org.au)
  • however, the diagnosis requires detection of a recurrent 7q11.23 contiguous gene deletion of the Williams-Beuren syndrome critical region (WBSCR) that encompasses the elastin gene ( ELN ). (nih.gov)
  • The majority of Dr. Kozel's work focuses on the study of two elastin insufficiency-related diseases: the neurodevelopmental condition known as Williams syndrome (WS) and isolated supravalvular aortic stenosis (SVAS), a narrowing of the aorta, the vessel that carries blood from the heart to the rest of the body. (nih.gov)
  • Although Williams syndrome is an autosomal dominant condition, most cases are not inherited and occur sporadically in people with no family history of Williams syndrome. (nih.gov)
  • Pfeiffer syndrome is the result of an inherited autosomal dominant gene mutation or a new gene mutation. (medicalnewstoday.com)
  • Interaction style of mothers of young children with Williams syndrome and relations with child expressive vocabulary. (louisville.edu)
  • In this dissertation, I provide the first examination of relations between child expressive vocabulary, child chronological age (CA), child nonverbal reasoning IQ, estimated annual family income, and maternal interaction style for young children with Williams syndrome (WS). (louisville.edu)
  • Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature. (uams.edu)
  • According to a report in the Orphanet Journal of Rare Diseases , people with type 2 Pfeiffer syndrome have cloverleaf-shaped skulls, resulting from the excessive fusion of the skull bones. (medicalnewstoday.com)
  • The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. (medscape.com)
  • Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. (medscape.com)
  • A new AAP clinical report, " Health Care Supervision for Children With Williams Syndrome ," in the February 2020 Pediatrics , updates the AAP's 2001 recommendations on WS, including new information on multiple advances in diagnosis, evaluation, and therapies that are available today. (healthychildren.org)
  • The diagnosis of Williams syndrome was based on clinical features and determined by each site. (umn.edu)
  • These results support the hypothesis that maternal interaction style significantly predicts child expressive vocabulary SS in children with Williams syndrome aged 4- 8 years even after taking into account the effects of nonverbal reasoning SS, estimated annual family income, and child CA. Implications for clinical interventions to facilitate more positive parent-child interactions are discussed. (louisville.edu)
  • Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. (uams.edu)
  • The WSA is the most comprehensive resource for people and families living with Williams syndrome as well as doctors, researchers and educators. (ollibean.com)
  • A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. (rush.edu)
  • MacLeod LS, Kogan CS, Collin CA, Berry-Kravis E, Messier C, Gandhi R. A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. (rush.edu)
  • You may donate here electronically or Text GIVEWSA to 41444 or mail a check, payable to Williams Syndrome Association , to 243 Broadway, #9188, Newark, NJ 07104. (williams-syndrome.org)
  • When Do Symptoms of Williams syndrome Begin? (nih.gov)
  • The days when she was fussy, picky or otherwise difficult to feed - those symptoms of Williams Syndrome are long passed. (williamssyndromeadult.com)
  • Although a certain amount of variability exists with the Williams syndrome population, the clear genetic basis presents an unusual opportunity to search for the genetic underpinnings of human social behavior and social characteristics, such as trust and over-friendliness," explains Bellugi. (sciencedaily.com)
  • A human neurodevelopmental model for Williams syndrome. (ca.gov)
  • This publication describe a human model for Williams syndrome (WS) using iPSC. (ca.gov)
  • The Williams Syndrome Association (WSA) does not provide medical or legal advice or services. (williams-syndrome.org)
  • Ben supports his mother, Terry Monkaba, Executive Director of the Williams Syndrome Association , as an exceptional ambassador. (berkshirehills.org)
  • According to the National Craniofacial Association, a parent with Pfeiffer syndrome has a 50 percent chance of passing the condition on to their child. (medicalnewstoday.com)
  • Participants with WS may do so at a Williams Syndrome Association family meeting or camp, or at NIH. (nih.gov)
  • Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. (medscape.com)
  • 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (medscape.com)
  • Bayes M, Magano LF, Rivera N, Flores R, Perez Jurado LA. Mutational mechanisms of Williams-Beuren syndrome deletions. (medscape.com)
  • Dutly F, Schinzel A. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. (medscape.com)
  • Williams Syndrome (WS) is a disease of genetic etiology caused by micro-deletions at the 7q11.23 region. (bvsalud.org)
  • Pfeiffer syndrome is a rare genetic condition that causes the premature fusing of the skull, resulting in an abnormal shaping of the face and head. (medicalnewstoday.com)
  • There are three subtypes of Pfeiffer syndrome, with types 2 and 3 being the most severe. (medicalnewstoday.com)
  • No treatments can reverse Pfeiffer syndrome, but treatment can manage specific symptoms of this condition. (medicalnewstoday.com)
  • There are three subtypes of Pfeiffer syndrome, classified by severity. (medicalnewstoday.com)
  • Surgery is central to the treatment of Pfeiffer syndrome. (medicalnewstoday.com)
  • What is Pfeiffer syndrome? (medicalnewstoday.com)
  • In Pfeiffer syndrome, these bones fuse too early. (medicalnewstoday.com)
  • But in the case of Pfeiffer syndrome, the plates pull together too soon, and the skull cannot expand in time with the growing brain, which causes abnormal face and head shaping. (medicalnewstoday.com)
  • Babies born with Pfeiffer syndrome may also have bulging eyes , high foreheads, beaked noses, and sunken mid-faces. (medicalnewstoday.com)
  • The majority of people with Pfeiffer syndrome develop it from a new mutation because neither parent has a gene mutation that could be passed on. (medicalnewstoday.com)
  • People with type 1 Pfeiffer syndrome may have fluid buildup in the brain and hearing loss . (medicalnewstoday.com)
  • Because type 1 is a more mild form of Pfeiffer syndrome, individuals with this form of the disease have normal lifespans, provided the condition is successfully treated. (medicalnewstoday.com)
  • Type 3 Pfeiffer syndrome causes the same kinds of disabilities as type 2, except for the cloverleaf skull. (medicalnewstoday.com)
  • The outlook for people with type 3 Pfeiffer syndrome is also often poor and may result in early death. (medicalnewstoday.com)
  • Surgery is usually required to treat Pfeiffer syndrome. (medicalnewstoday.com)
  • Children with Pfeiffer syndrome often endure multiple complex surgeries to repair skull and joint deformities. (medicalnewstoday.com)
  • Here we investigate neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. (ca.gov)
  • At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation and altered network connectivity. (ca.gov)
  • Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of post-mortem layer V/VI cortical neurons. (ca.gov)
  • Scientists at the Salk Institute for Biological Studies have found a clever way to sort one from the other: They compared the social behavior of children with Williams syndrome -- known for their innate drive to interact with people -- across cultures with differing social mores. (sciencedaily.com)
  • Despite a myriad health problems and a generally low IQ, children with Williams syndrome are loquacious, sociable, and irresistibly drawn to strangers. (sciencedaily.com)
  • Williams Syndrome (WS), is present in 1 in 7,500 children. (healthychildren.org)
  • Children with WS can have motor and language delays and, in 75% of children with Williams, intellectual disabilities. (healthychildren.org)
  • The data suggest that children with Williams syndrome and bilateral outflow tract obstruction have statistically and clinically significantly higher mortality associated with catheterization or operation. (umn.edu)
  • Unlike disorders that can make connecting with your child difficult, children with Williams syndrome tend to be social, friendly and endearing. (williamssyndrome.org.au)
  • Blue and green-eyed children with Williams syndrome can have a prominent 'starburst' or white lacy pattern on their iris. (williamssyndrome.org.au)
  • I suspect this is a challenge faced by many people who care for adults or children with learning difficulties and not just Williams Syndrome. (williamssyndromeadult.com)
  • And she's going to talk to me about some work she's been doing, uh, looking at sibling relationships in children with Williams syndrome. (buzzsprout.com)
  • So I guess some of the main findings from this were, firstly, very broadly, that emotional and behavioural adjustment and anxiety in siblings of children with Williams syndrome is actually really similar to children in the rest of the population on average, right? (buzzsprout.com)
  • This thesis explores the educational inclusion experiences of children with Williams syndrome (WS) in Irish primary schools from the perspectives of the children, their parents and teachers. (lincoln.ac.uk)
  • People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). (medlineplus.gov)
  • Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. (ca.gov)
  • Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator in calcium homeostasis? (medscape.com)
  • Led by Bellugi, the researchers are looking to Williams syndrome to provide clues to some of the mysteries of the genetic basis of behavior. (sciencedaily.com)
  • Since we published this, it has probably been one of the most well-replicated and reliable brain phenotypes that has been reported in Williams syndrome," Berman said. (nih.gov)
  • In line with this polar social orientation of the two syndromes are their distinct language skills, which follow a remarkably similar divide. (medscape.com)
  • People with Williams syndrome hyperfocus on the eyes of others in social engagements. (wikipedia.org)
  • Most of the write-ups have emphasized, rightly, that people with Williams tend to show little or no social fear -- a lack that could explain a lack of racial bias. (scienceblogs.com)
  • Most reactions to the paper have emphasized the lack of social fear that people with Williams. (scienceblogs.com)
  • however people with Williams syndrome often don't process nuanced social cues and this makes it difficult to form lasting relationships. (williamssyndrome.org.au)
  • In this review, we provide an overview of neuroimaging studies on social cognition in Williams syndrome and discuss the neural basis of the social brain. (elsevierpure.com)
  • Many kids with CVI have multiple diagnoses, such as cerebral palsy, retinopathy of prematurity, Rett syndrome and others, making diagnosis even more nuanced. (perkins.org)
  • Williams syndrome : through the lens of precision medicine / Beth Kozel. (nih.gov)
  • Much of the research revolves around the work of molecular geneticist Julie R. Korenberg, a professor in the Department of Pediatrics at UCLA and an adjunct professor at the Salk Institute, who has been studying the genetic basis of Williams syndrome for the last decade. (sciencedaily.com)
  • Listen to 4 of our wonderful WS adults, (Bruno, Ella, Mike and Katy) talk about their lives with Williams Syndrome. (williams-syndrome.org.uk)
  • As adults, most people with Williams syndrome will need supportive housing to live to their fullest potential. (williamssyndrome.org.au)
  • As I know so many adults with Williams Syndrome are prone to diabetes, I think it's important that we learn these lessons now. (williamssyndromeadult.com)