Sotos Syndrome
Gigantism
Craniofacial Abnormalities
Facies
Abnormalities, Multiple
Growth Disorders
Age Determination by Skeleton
Chromosomes, Human, Pair 5
Intellectual Disability
Developmental Disabilities
Intracellular Signaling Peptides and Proteins
Learning Disorders
Nuclear Proteins
Pedigree
Phenotype
Gene Deletion
Mutation
Impulse Control Disorders
Obsessive-Compulsive Disorder
Encyclopedias as Topic
Attention Deficit Disorder with Hyperactivity
Stuttering
The structure of NSD1 reveals an autoregulatory mechanism underlying histone H3K36 methylation. (1/9)
(+info)Sotos syndrome and scoliosis surgical treatment: a 10-year follow-up. (2/9)
(+info)Sotos syndrome. (3/9)
(+info)A child with an STK11 mutation and Sotos syndrome-like features: can STK11 mutations produce a Sotos syndrome phenocopy? (4/9)
(+info)Sotos syndrome, failure to thrive and parotitis. (5/9)
(+info)A case of Sotos syndrome treated with distraction osteogenesis in maxilla and mandible. (6/9)
Sotos syndrome is inherited in an autosomal-dominant manner and is characterized by increased birth weight, excessive growth, advanced bone age, and distinctive facial features, including dolichocephaly, hypertelorism, and a prominent mandible. We treated a jaw deformity due to Sotos syndrome consisting of malocclusion due to a narrow maxillary dental arch and mandibular retrusion from hypoplasia of the rami. The patient was a 17-year-old man. Malocclusion due to a narrow maxillary dental arch and mandibular retrusion was diagnosed. Rapid maxillary expansion with Lines corticotomy and mandibular advancement with distraction osteogenesis were performed. The maxilla was expanded laterally a total of 3 mm and the mandible prolonged 12 mm in the posterior area of the mandibular body. Subsequently, orthodontic treatment was continued. At present, 5 years after surgery, occlusion remains good and stable. (+info)Generation of the Sotos syndrome deletion in mice. (7/9)
(+info)Sotos syndrome is associated with deregulation of the MAPK/ERK-signaling pathway. (8/9)
(+info)Sotos Syndrome is a genetic disorder characterized by excessive early growth and developmental delay. It is also known as cerebral gigantism. The symptoms typically include:
1. Large size at birth, with rapid postnatal growth leading to tall stature in early childhood.
2. Developmental delay, often becoming apparent after the first year of life. This may include delayed milestones in sitting, standing, walking, and speaking.
3. Macrocephaly (large head size).
4. Characteristic facial features such as a high forehead, prominent jaw, and wide-spaced eyes.
5. Learning difficulties or intellectual disability, ranging from mild to severe.
6. Increased risk of seizures, particularly in infancy and childhood.
7. Behavioral problems such as ADHD (Attention Deficit Hyperactivity Disorder) or autism spectrum disorders.
The syndrome is caused by mutations in the NSD1 gene, which is located on chromosome 5. This gene provides instructions for making a protein that helps regulate gene expression. In Sotos Syndrome, the mutated NSD1 gene doesn't function properly, leading to overgrowth and developmental delay. The syndrome is usually inherited in an autosomal dominant manner, meaning that only one copy of the altered gene, inherited from either parent, is sufficient to cause the disorder. However, most cases result from new (de novo) mutations in the gene and occur in people with no family history of the disorder.
Gigantism is a rare medical condition characterized by excessive growth and height significantly above average. This occurs due to an overproduction of growth hormone (GH), also known as somatotropin, during the growth phase in childhood. The pituitary gland, a small gland located at the base of the brain, is responsible for producing this hormone.
In gigantism, the pituitary gland releases too much GH, leading to abnormal bone and tissue growth. This condition is different from acromegaly, which is characterized by excessive GH production in adulthood after the growth phase has ended. In both cases, the excess GH can lead to various health complications, including cardiovascular disease, diabetes, hypertension, and joint problems.
Gigantism is typically caused by a benign tumor called a pituitary adenoma that presses against and stimulates the production of GH from the anterior pituitary gland. Treatment usually involves surgical removal of the tumor or medication to control GH levels, depending on the severity and progression of the condition. Early diagnosis and treatment are crucial for managing the symptoms and preventing long-term health complications associated with gigantism.
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.
Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.
Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).
Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.
"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.
'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.
Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.
There are two main types of growth disorders:
1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.
Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.
Age determination by skeleton, also known as skeletal aging or skeletal maturation, is the process of estimating a person's age based on the analysis of their skeletal remains. This technique is commonly used in forensic anthropology to help identify unknown individuals or determine the time since death.
The method involves examining various features of the skeleton, such as the degree of fusion of epiphyseal growth plates, the shape and size of certain bones, and the presence or absence of degenerative changes. These features change in a predictable way as a person grows and develops, allowing for an estimation of their age at death.
It is important to note that while skeletal aging can provide useful information, it is not always possible to determine an exact age. Instead, forensic anthropologists typically provide a range of ages that the individual may have fallen into based on the skeletal evidence. Additionally, factors such as genetics, nutrition, and health can affect the rate at which skeletal features develop, making it difficult to provide a precise estimate in some cases.
Human chromosome pair 5 consists of two rod-shaped structures present in the nucleus of human cells, which contain genetic material in the form of DNA and proteins. Each member of chromosome pair 5 is a single chromosome, and humans typically have 23 pairs of chromosomes for a total of 46 chromosomes in every cell of their body (except gametes or sex cells, which contain 23 chromosomes).
Chromosome pair 5 is one of the autosomal pairs, meaning it is not a sex chromosome. Each member of chromosome pair 5 is approximately 197 million base pairs in length and contains around 800-900 genes that provide instructions for making proteins and regulating various cellular processes.
Chromosome pair 5 is associated with several genetic disorders, including cri du chat syndrome (resulting from a deletion on the short arm of chromosome 5), Prader-Willi syndrome and Angelman syndrome (both resulting from abnormalities in gene expression on the long arm of chromosome 5).
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.
Developmental disabilities are a group of conditions that arise in childhood and are characterized by significant impairments in cognitive functioning, physical development, or both. These disabilities can affect various areas of an individual's life, including their ability to learn, communicate, socialize, and take care of themselves.
Examples of developmental disabilities include intellectual disabilities, cerebral palsy, autism spectrum disorder, Down syndrome, and fetal alcohol spectrum disorders. These conditions are typically diagnosed in childhood and can persist throughout an individual's life.
The causes of developmental disabilities are varied and can include genetic factors, environmental influences, and complications during pregnancy or childbirth. In some cases, the exact cause may be unknown.
It is important to note that individuals with developmental disabilities have unique strengths and abilities, as well as challenges. With appropriate support and services, they can lead fulfilling lives and participate actively in their communities.
Intracellular signaling peptides and proteins are molecules that play a crucial role in transmitting signals within cells, which ultimately lead to changes in cell behavior or function. These signals can originate from outside the cell (extracellular) or within the cell itself. Intracellular signaling molecules include various types of peptides and proteins, such as:
1. G-protein coupled receptors (GPCRs): These are seven-transmembrane domain receptors that bind to extracellular signaling molecules like hormones, neurotransmitters, or chemokines. Upon activation, they initiate a cascade of intracellular signals through G proteins and secondary messengers.
2. Receptor tyrosine kinases (RTKs): These are transmembrane receptors that bind to growth factors, cytokines, or hormones. Activation of RTKs leads to autophosphorylation of specific tyrosine residues, creating binding sites for intracellular signaling proteins such as adapter proteins, phosphatases, and enzymes like Ras, PI3K, and Src family kinases.
3. Second messenger systems: Intracellular second messengers are small molecules that amplify and propagate signals within the cell. Examples include cyclic adenosine monophosphate (cAMP), cyclic guanosine monophosphate (cGMP), diacylglycerol (DAG), inositol triphosphate (IP3), calcium ions (Ca2+), and nitric oxide (NO). These second messengers activate or inhibit various downstream effectors, leading to changes in cellular responses.
4. Signal transduction cascades: Intracellular signaling proteins often form complex networks of interacting molecules that relay signals from the plasma membrane to the nucleus. These cascades involve kinases (protein kinases A, B, C, etc.), phosphatases, and adapter proteins, which ultimately regulate gene expression, cell cycle progression, metabolism, and other cellular processes.
5. Ubiquitination and proteasome degradation: Intracellular signaling pathways can also control protein stability by modulating ubiquitin-proteasome degradation. E3 ubiquitin ligases recognize specific substrates and conjugate them with ubiquitin molecules, targeting them for proteasomal degradation. This process regulates the abundance of key signaling proteins and contributes to signal termination or amplification.
In summary, intracellular signaling pathways involve a complex network of interacting proteins that relay signals from the plasma membrane to various cellular compartments, ultimately regulating gene expression, metabolism, and other cellular processes. Dysregulation of these pathways can contribute to disease development and progression, making them attractive targets for therapeutic intervention.
A learning disorder is a neurodevelopmental disorder that affects an individual's ability to acquire, process, and use information in one or more academic areas despite normal intelligence and adequate instruction. It can manifest as difficulties with reading (dyslexia), writing (dysgraphia), mathematics (dyscalculia), or other academic skills. Learning disorders are not the result of low intelligence, lack of motivation, or environmental factors alone, but rather reflect a significant discrepancy between an individual's cognitive abilities and their academic achievement. They can significantly impact a person's ability to perform in school, at work, and in daily life, making it important to diagnose and manage these disorders effectively.
Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.
A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.
Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.
The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.
Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.
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.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.
The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.
Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.
Impulse Control Disorders (ICDs) are a group of psychiatric conditions characterized by the failure to resist an impulse, drive, or temptation to perform an act that is harmful to oneself or others. This leads to negative consequences such as distress, anxiety, or disruption in social, occupational, or other important areas of functioning.
The Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5) recognizes several specific ICDs, including:
1. Kleptomania - the recurrent failure to resist impulses to steal items, even though they are not needed for personal use or financial gain.
2. Pyromania - the deliberate and purposeful fire-setting on more than one occasion.
3. Intermittent Explosive Disorder - recurrent behavioral outbursts representing a failure to control aggressive impulses, resulting in serious assaultive acts or destruction of property.
4. Pathological Gambling - persistent and recurrent maladaptive gambling behavior that disrupts personal, family, or vocational pursuits.
5. Internet Gaming Disorder - the excessive and prolonged use of the internet for gaming, which leads to clinically significant impairment or distress.
These disorders are typically associated with a range of emotional, cognitive, and behavioral symptoms that can vary depending on the specific disorder and individual presentation. Treatment often involves a combination of psychotherapy, medication, and self-help strategies to manage symptoms and improve overall functioning.
Obsessive-Compulsive Disorder (OCD) is a mental health disorder characterized by the presence of obsessions and compulsions. Obsessions are recurrent and persistent thoughts, urges, or images that are intrusive, unwanted, and often distressing. Compulsions are repetitive behaviors or mental acts that an individual feels driven to perform in response to an obsession or according to rigid rules, and which are aimed at preventing or reducing anxiety or distress, or preventing some dreaded event or situation. These obsessions and/or compulsions cause significant distress, take up a lot of time (an hour or more a day), and interfere with the individual's daily life, including social activities, relationships, and work or school performance. OCD is considered a type of anxiety disorder and can also co-occur with other mental health conditions.
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.
Attention Deficit Hyperactivity Disorder (ADHD) with hyperactivity is a neurodevelopmental disorder that affects both children and adults. The condition is characterized by symptoms including:
1. Difficulty paying attention or staying focused on a single task
2. Impulsivity, or acting without thinking
3. Hyperactivity, or excessive fidgeting, restlessness, or talking
In order to be diagnosed with ADHD with hyperactivity, an individual must exhibit these symptoms to a degree that is developmentally inappropriate and interferes with their daily functioning. Additionally, the symptoms must have been present for at least six months and be present in multiple settings (e.g., at home, school, work).
It's important to note that ADHD can manifest differently in different people, and some individuals may experience predominantly inattentive or impulsive symptoms rather than hyperactive ones. However, when the hyperactive component is prominent, it is referred to as ADHD with hyperactivity.
Effective treatments for ADHD with hyperactivity include a combination of medication (such as stimulants) and behavioral therapy. With appropriate treatment, individuals with ADHD can learn to manage their symptoms and lead successful, fulfilling lives.
Stuttering is a speech disorder characterized by the repetition or prolongation of sounds, syllables, or words, as well as involuntary silent pauses or blocks during fluent speech. These disruptions in the normal flow of speech can lead to varying degrees of difficulty in communicating effectively and efficiently. It's important to note that stuttering is not a result of emotional or psychological issues but rather a neurological disorder involving speech motor control systems. The exact cause of stuttering remains unclear, although research suggests it may involve genetic, neurophysiological, and environmental factors. Treatment typically includes various forms of speech therapy to improve fluency and communication strategies to manage the challenges associated with stuttering.