Williams Syndrome susquenita
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Williams syndrome is a rare genetic disorder caused by a deletion of genes on chromosome 7, affecting facial features, cognition and personality. It is characterized by distinctive facial features like an upturned nose, wide mouth and full lips. Williams syndrome affects boys and girls equally and symptoms are present from a young age. While there is no cure, many people with Williams syndrome live full lives with support for their learning disabilities and medical needs.
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Williams Syndrome
Williams Syndrome is a rare genetic condition present at birth that affects physical features and development. It occurs in about 1 in 20,000 births due to a random genetic mutation. Common characteristics include heart defects, learning disabilities, an overly friendly demeanor, and narrow blood vessels. There is no cure for Williams Syndrome, but symptoms can be managed through careful medical care and avoiding excess calcium and vitamin D. The condition varies in severity and some cases, like that of Cody described, require multiple heart surgeries while allowing the person to live with milder ongoing effects of the syndrome.
Williams Syndrome
Williams Syndrome is a rare genetic disorder caused by a deletion of genes on chromosome 7, resulting in physical, cognitive, and behavioral effects including distinctive facial features, learning difficulties, and anxiety. It is not typically inherited but occurs randomly during reproduction. While there is no cure, treatment may include physical, speech, and occupational therapy as well as managing blood pressure and calcium levels.
Williams Syndrome
Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Williams Syndrome
Want to learn about Williams Syndrome? Well...here is a slide show that tells you the cover story behind Williams Syndrome. Enjoy.
Down syndrome
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Sindrome de william MED-UIDE
El síndrome de Williams es una rara afección genética causada por una deleción en el cromosoma 7 que afecta la producción de elastina. Los síntomas incluyen características faciales distintivas, retraso mental leve a moderado, y defectos cardíacos congénitos. No tiene cura, pero el tratamiento se enfoca en manejar los síntomas y mejorar la calidad de vida.
Klinefeltersyndrome 120322141345-phpapp02
Klinefelter syndrome is a genetic condition caused by the presence of an extra X chromosome, resulting in a 47, XXY chromosome pattern. It is one of the most common sex chromosome abnormalities in males. Individuals with Klinefelter syndrome are typically infertile and experience learning disabilities as well as physical symptoms like enlarged breasts and sparse body hair. The condition is diagnosed through a karyotype analysis and treated with testosterone therapy to promote normal development.
Genetics of Thalassemia
This patient is married to a man from Saudi Arabia whose family members require regular blood transfusions. She is concerned about the risk of genetic disorders causing anemia in her potential children. The document discusses thalassemia, a genetic blood disorder caused by defects in hemoglobin production. It explains the genetics and inheritance of alpha and beta thalassemia. The advisor would recommend confirming the blood conditions of the parents, performing lab work and genetic testing, and providing genetic counseling to help the couple understand the risks and make informed reproductive decisions.
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Williams Syndrome
Williams Syndrome is a rare genetic condition present at birth that affects physical features and development. It occurs in about 1 in 20,000 births due to a random genetic mutation. Common characteristics include heart defects, learning disabilities, an overly friendly demeanor, and narrow blood vessels. There is no cure for Williams Syndrome, but symptoms can be managed through careful medical care and avoiding excess calcium and vitamin D. The condition varies in severity and some cases, like that of Cody described, require multiple heart surgeries while allowing the person to live with milder ongoing effects of the syndrome.
Williams Syndrome
Williams Syndrome is a rare genetic disorder caused by a deletion of genes on chromosome 7, resulting in physical, cognitive, and behavioral effects including distinctive facial features, learning difficulties, and anxiety. It is not typically inherited but occurs randomly during reproduction. While there is no cure, treatment may include physical, speech, and occupational therapy as well as managing blood pressure and calcium levels.
Williams Syndrome
Williams Syndrome is a genetic disorder caused by a deletion of genetic material on chromosome 7, including the elastin gene. This affects connective tissues and can cause heart defects, unusual facial features, and developmental delays. Doctors diagnose it based on symptoms, and use a technique called FISH to confirm the diagnosis by fluorescent labeling of the missing elastin gene. There is no cure, and life-long treatment and monitoring is required to manage symptoms. Support groups provide resources for individuals and families affected by Williams Syndrome.
Williams Syndrome
Want to learn about Williams Syndrome? Well...here is a slide show that tells you the cover story behind Williams Syndrome. Enjoy.
Down syndrome
Pediatrics. trisomy 21. Meiotic non-disjunction of chromosome 21. clinical features and associated abnormalities of down syndrome. screening test for down syndrome. counseling for parents in down syndrome.
Sindrome de william MED-UIDE
El síndrome de Williams es una rara afección genética causada por una deleción en el cromosoma 7 que afecta la producción de elastina. Los síntomas incluyen características faciales distintivas, retraso mental leve a moderado, y defectos cardíacos congénitos. No tiene cura, pero el tratamiento se enfoca en manejar los síntomas y mejorar la calidad de vida.
Klinefeltersyndrome 120322141345-phpapp02
Klinefelter syndrome is a genetic condition caused by the presence of an extra X chromosome, resulting in a 47, XXY chromosome pattern. It is one of the most common sex chromosome abnormalities in males. Individuals with Klinefelter syndrome are typically infertile and experience learning disabilities as well as physical symptoms like enlarged breasts and sparse body hair. The condition is diagnosed through a karyotype analysis and treated with testosterone therapy to promote normal development.
Genetics of Thalassemia
This patient is married to a man from Saudi Arabia whose family members require regular blood transfusions. She is concerned about the risk of genetic disorders causing anemia in her potential children. The document discusses thalassemia, a genetic blood disorder caused by defects in hemoglobin production. It explains the genetics and inheritance of alpha and beta thalassemia. The advisor would recommend confirming the blood conditions of the parents, performing lab work and genetic testing, and providing genetic counseling to help the couple understand the risks and make informed reproductive decisions.
Pediatric Stroke
The document provides information on pediatric stroke. It defines stroke and describes the different types that can occur in children, including arterial ischemic stroke, cerebral sinovenous thrombosis, and hemorrhagic stroke. Risk factors and potential causes are discussed for each type. Clinical features may include seizures, weakness on one side of the body, difficulty speaking or swallowing. Diagnosis involves neuroimaging like CT or MRI along with other lab tests. Treatment focuses on neuroprotection, recanalization of blocked vessels, and anticoagulation or antiplatelet therapies to prevent further clotting.
Von willebrand's disease
This document summarizes von Willebrand disease, an inherited bleeding disorder caused by decreased levels or function of von Willebrand factor. The main types are type 1, the most common, with low von Willebrand factor levels; type 2 with abnormal von Willebrand factor function; and type 3 where it is absent. Symptoms range from mild to severe bleeding. Diagnosis involves tests of von Willebrand factor antigen, activity, and structure. Treatment focuses on replacing missing clotting factors or stabilizing clots. Complications can include anemia or death from bleeding if not managed.
von Willebrand disease
Von Willebrand disease is caused by mutations in the von Willebrand factor gene and results in bleeding problems. There are several types of von Willebrand disease characterized by differences in von Willebrand factor amount and function. Treatment depends on disease severity and involves desmopressin, factor replacement therapy, or antifibrinolytics to prevent and control bleeding.
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This document discusses bleeding disorders in children, including the pathophysiology, etiology, clinical features, and management of conditions like hemophilia, von Willebrand disease, idiopathic thrombocytopenic purpura (ITP), and vitamin K deficiency. It covers the mechanisms of hemostasis and coagulation factors. Common causes of abnormal bleeding include vascular defects, platelet defects, and coagulation abnormalities. Clinical features may include bruising, purpura, epistaxis, and bleeding after procedures or trauma. Investigations include complete blood count, prothrombin time, activated partial thromboplastin time, and coagulation factor levels. Management focuses on preventing active bleeding and treating acute bleeds.
Von willebrand disease
Von Willebrand disease is a genetic bleeding disorder caused by missing or defective von Willebrand factor. It results in easy bruising, excessive bleeding, and heavy periods. There are several types classified by the von Willebrand factor defect. Treatment depends on severity but may include desmopressin, clotting factor concentrates, hormonal treatments, or antifibrinolytics. Pregnancy requires extra precautions due to risks of bleeding and transmission to offspring.
Patau Syndrome
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
Stroke in children
This document discusses stroke in children. Key points include:
- Stroke in children differs from adults and can have developmental, genetic, or environmental causes rather than lifestyle factors.
- Presentation is often subtle with a wide differential diagnosis. Risk factors are multiple and poorly understood.
- Neonates are at highest risk. Incidence of ischemic stroke is around 1 in 4000-5600 term births. Cerebral venous thrombosis accounts for 0.67 cases per 100,000 children per year.
- Evaluation involves detailed history and physical exam looking for signs of bleeding disorders, infections, cardiac abnormalities, or genetic syndromes. Imaging and lab tests are needed to make an accurate diagnosis.
Hereditary spherocytosis
This document discusses hereditary spherocytosis (HS), an inherited disorder caused by defects in the red blood cell membrane skeleton. HS is characterized by spherical red blood cells that are less deformable and vulnerable to splenic sequestration and destruction. The defects are primarily in proteins like ankyrin, band 3, spectrin or band 4.2 that make up the membrane skeleton. This leads to a reduced red blood cell life span of 10-20 days instead of the normal 120 days. Clinical features include anemia, splenomegaly, jaundice, and hemolytic crises from infections. Diagnosis involves tests like peripheral smear, bone marrow examination, and osmotic fragility testing. Treatment
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Shaken baby syndrome
As nurses, we play an important role in educating parents about shaken baby syndrome and how to prevent it. Shaken baby syndrome occurs when an infant's head rapidly moves back and forth, causing brain damage. It can result in serious injuries like blindness, cerebral palsy, or even death. Nurses should teach parents healthy ways to soothe a crying baby such as feeding, changing, or going for a walk instead of shaking them.
Approach to Dysmorphic Infant or Child
1. The document discusses an algorithmic approach to diagnosing malformed infants and children. It addresses dysmorphology versus inborn errors of metabolism, the importance of history and examination findings, and classifications of malformations.
2. Key classifications discussed include deformations, disruptions, dysplasias, and malformation syndromes. Flow charts are provided to guide clinicians through assessing number of malformations, tissues involved, tissue damage, and joint/bone involvement to determine classification.
3. Examples are given to demonstrate the application of the algorithm, such as identifying achondroplasia as a skeletal dysplasia based on involvement of one tissue with intact bones and joints. The importance of a systematic approach and differential diagnosis
Stroke in children
Stroke can occur in children and has a variety of causes. Evaluation involves brain imaging, such as MRI or CT, to determine if the stroke is ischemic or hemorrhagic. For ischemic strokes, further workup is needed to identify the underlying cause, such as cardiac issues, vascular abnormalities, or genetic conditions. Treatment depends on the type of stroke but may include anticoagulation, antiplatelets, managing elevated intracranial pressure, and rehabilitation. Outcomes vary but long term deficits can occur in over half of children who have strokes.
Thalassemia
Thalassemia is an inherited blood disorder caused by variants or missing genes that affect hemoglobin production. This results in reduced red blood cells and mild to severe anemia. There are two main types - alpha and beta thalassemia. Symptoms range from none in minor cases to severe anemia requiring transfusions in major cases. Investigations include blood tests to check hemoglobin levels, red blood cell size and count, and hemoglobin electrophoresis to confirm the diagnosis. Management focuses on blood transfusions and iron chelation therapy to prevent organ damage from excess iron.
What is thalassemia
1. Thalassemia is an inherited blood disorder that causes anemia due to reduced hemoglobin and fewer red blood cells.
2. It occurs when genes that code for the alpha or beta globin chains of hemoglobin are missing or abnormal.
3. Symptoms range from none to severe anemia, depending on which genes are affected and how many. The most severe form is called Cooley's anemia.
Sturge weber syndrome
Sturge-Weber syndrome is a rare neurological and skin disorder characterized by a facial birthmark and abnormalities of the brain and eyes. It results from errors in development before birth. Symptoms may include seizures, glaucoma, developmental delays, and weakness on one side of the body. The severity varies from case to case. Treatment focuses on controlling seizures, managing glaucoma, and reducing the birthmark with laser treatments. Prognosis depends on when seizures start - earlier seizures are linked to greater intellectual impairments.
Von willebrands disease
Von Willebrand disease is the most common inherited bleeding disorder, caused by mutations that impair the function or production of von Willebrand factor. There are three main types - type 1 is characterized by a quantitative deficiency, type 2 involves qualitative defects, and type 3 is the rarest form with extremely low von Willebrand factor levels. Patients typically present with mucocutaneous bleeding or bleeding after trauma or surgery. Diagnosis involves testing von Willebrand factor antigen levels, activity, and multimers. Treatment options include desmopressin, von Willebrand factor replacement, antifibrinolytics, and adjuvant therapies depending on severity and bleeding history.
Genetic disorder
This document summarizes several genetic disorders: Down's syndrome is characterized by an extra copy of chromosome 18 and features like upward slanting eyes. Edward's syndrome involves a missing part of chromosome 5 and a cat-like cry. Lejeune's syndrome only affects females who lack an X chromosome and have facial abnormalities and infertility. Turner's syndrome is caused by missing genetic material on the X chromosome and causes short stature. Williams-Beuren syndrome is due to a microdeletion on chromosome 7 and causes facial features and cardiovascular issues. Klinefelter's syndrome occurs only in males with two or more X chromosomes and causes infertility and gynecomastia. Tay-Sachs disease is a recessive disorder caused
Hallermann streiff syndrome
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The document provides information on pediatric stroke. It defines stroke and describes the different types that can occur in children, including arterial ischemic stroke, cerebral sinovenous thrombosis, and hemorrhagic stroke. Risk factors and potential causes are discussed for each type. Clinical features may include seizures, weakness on one side of the body, difficulty speaking or swallowing. Diagnosis involves neuroimaging like CT or MRI along with other lab tests. Treatment focuses on neuroprotection, recanalization of blocked vessels, and anticoagulation or antiplatelet therapies to prevent further clotting.
Von willebrand's disease
This document summarizes von Willebrand disease, an inherited bleeding disorder caused by decreased levels or function of von Willebrand factor. The main types are type 1, the most common, with low von Willebrand factor levels; type 2 with abnormal von Willebrand factor function; and type 3 where it is absent. Symptoms range from mild to severe bleeding. Diagnosis involves tests of von Willebrand factor antigen, activity, and structure. Treatment focuses on replacing missing clotting factors or stabilizing clots. Complications can include anemia or death from bleeding if not managed.
von Willebrand disease
Von Willebrand disease is caused by mutations in the von Willebrand factor gene and results in bleeding problems. There are several types of von Willebrand disease characterized by differences in von Willebrand factor amount and function. Treatment depends on disease severity and involves desmopressin, factor replacement therapy, or antifibrinolytics to prevent and control bleeding.
Bleeding disorders in children 2021
This document discusses bleeding disorders in children, including the pathophysiology, etiology, clinical features, and management of conditions like hemophilia, von Willebrand disease, idiopathic thrombocytopenic purpura (ITP), and vitamin K deficiency. It covers the mechanisms of hemostasis and coagulation factors. Common causes of abnormal bleeding include vascular defects, platelet defects, and coagulation abnormalities. Clinical features may include bruising, purpura, epistaxis, and bleeding after procedures or trauma. Investigations include complete blood count, prothrombin time, activated partial thromboplastin time, and coagulation factor levels. Management focuses on preventing active bleeding and treating acute bleeds.
Von willebrand disease
Von Willebrand disease is a genetic bleeding disorder caused by missing or defective von Willebrand factor. It results in easy bruising, excessive bleeding, and heavy periods. There are several types classified by the von Willebrand factor defect. Treatment depends on severity but may include desmopressin, clotting factor concentrates, hormonal treatments, or antifibrinolytics. Pregnancy requires extra precautions due to risks of bleeding and transmission to offspring.
Patau Syndrome
Patau Syndrome, also known as Trisomy 13, is a genetic disorder caused by the presence of an extra copy of chromosome 13 or the improper placement of chromosome 13. It results in severe physical and mental abnormalities such as heart defects, unusual facial features, small head size, missing or small eyes, extra fingers and toes, and spinal defects. Diagnosis is typically made through ultrasounds, x-rays, MRI, CT scans, or chromosome studies. Treatments focus on addressing specific physical problems, though many infants have difficulties surviving beyond the first few weeks due to neurological or heart issues.
Stroke in children
This document discusses stroke in children. Key points include:
- Stroke in children differs from adults and can have developmental, genetic, or environmental causes rather than lifestyle factors.
- Presentation is often subtle with a wide differential diagnosis. Risk factors are multiple and poorly understood.
- Neonates are at highest risk. Incidence of ischemic stroke is around 1 in 4000-5600 term births. Cerebral venous thrombosis accounts for 0.67 cases per 100,000 children per year.
- Evaluation involves detailed history and physical exam looking for signs of bleeding disorders, infections, cardiac abnormalities, or genetic syndromes. Imaging and lab tests are needed to make an accurate diagnosis.
Hereditary spherocytosis
This document discusses hereditary spherocytosis (HS), an inherited disorder caused by defects in the red blood cell membrane skeleton. HS is characterized by spherical red blood cells that are less deformable and vulnerable to splenic sequestration and destruction. The defects are primarily in proteins like ankyrin, band 3, spectrin or band 4.2 that make up the membrane skeleton. This leads to a reduced red blood cell life span of 10-20 days instead of the normal 120 days. Clinical features include anemia, splenomegaly, jaundice, and hemolytic crises from infections. Diagnosis involves tests like peripheral smear, bone marrow examination, and osmotic fragility testing. Treatment
Sickle cell disease
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Bleeding disorders in children
This document discusses bleeding disorders in children. It covers the main types which are platelet disorders, coagulation disorders, and vascular abnormalities. Coagulation disorders can be congenital like hemophilia A and B which are caused by clotting factor deficiencies, or acquired like those caused by vitamin K deficiency or liver disease. Hemophilia A is caused by a factor VIII deficiency while hemophilia B is a factor IX deficiency. Clinical manifestations of hemophilia include easy bruising, joint bleeding, and bleeding from minor injuries that persists. Treatment involves replacing the missing clotting factor through infusions to achieve hemostatic levels.
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This document discusses pediatric stroke. It begins with definitions, types, epidemiology, etiology, and pathophysiology of pediatric stroke. The main types are ischemic and hemorrhagic stroke. Risk factors in children include structural heart disease, vasculopathies, hematological disorders, and prothrombotic states. Clinical features can include focal neurological deficits like hemiparesis. Diagnosis involves neuroimaging such as MRI and distinguishing stroke from other conditions. Management aims to prevent recurrence and support rehabilitation.
Shaken baby syndrome
As nurses, we play an important role in educating parents about shaken baby syndrome and how to prevent it. Shaken baby syndrome occurs when an infant's head rapidly moves back and forth, causing brain damage. It can result in serious injuries like blindness, cerebral palsy, or even death. Nurses should teach parents healthy ways to soothe a crying baby such as feeding, changing, or going for a walk instead of shaking them.
Approach to Dysmorphic Infant or Child
1. The document discusses an algorithmic approach to diagnosing malformed infants and children. It addresses dysmorphology versus inborn errors of metabolism, the importance of history and examination findings, and classifications of malformations.
2. Key classifications discussed include deformations, disruptions, dysplasias, and malformation syndromes. Flow charts are provided to guide clinicians through assessing number of malformations, tissues involved, tissue damage, and joint/bone involvement to determine classification.
3. Examples are given to demonstrate the application of the algorithm, such as identifying achondroplasia as a skeletal dysplasia based on involvement of one tissue with intact bones and joints. The importance of a systematic approach and differential diagnosis
Stroke in children
Stroke can occur in children and has a variety of causes. Evaluation involves brain imaging, such as MRI or CT, to determine if the stroke is ischemic or hemorrhagic. For ischemic strokes, further workup is needed to identify the underlying cause, such as cardiac issues, vascular abnormalities, or genetic conditions. Treatment depends on the type of stroke but may include anticoagulation, antiplatelets, managing elevated intracranial pressure, and rehabilitation. Outcomes vary but long term deficits can occur in over half of children who have strokes.
Thalassemia
Thalassemia is an inherited blood disorder caused by variants or missing genes that affect hemoglobin production. This results in reduced red blood cells and mild to severe anemia. There are two main types - alpha and beta thalassemia. Symptoms range from none in minor cases to severe anemia requiring transfusions in major cases. Investigations include blood tests to check hemoglobin levels, red blood cell size and count, and hemoglobin electrophoresis to confirm the diagnosis. Management focuses on blood transfusions and iron chelation therapy to prevent organ damage from excess iron.
What is thalassemia
1. Thalassemia is an inherited blood disorder that causes anemia due to reduced hemoglobin and fewer red blood cells.
2. It occurs when genes that code for the alpha or beta globin chains of hemoglobin are missing or abnormal.
3. Symptoms range from none to severe anemia, depending on which genes are affected and how many. The most severe form is called Cooley's anemia.
Sturge weber syndrome
Sturge-Weber syndrome is a rare neurological and skin disorder characterized by a facial birthmark and abnormalities of the brain and eyes. It results from errors in development before birth. Symptoms may include seizures, glaucoma, developmental delays, and weakness on one side of the body. The severity varies from case to case. Treatment focuses on controlling seizures, managing glaucoma, and reducing the birthmark with laser treatments. Prognosis depends on when seizures start - earlier seizures are linked to greater intellectual impairments.
Von willebrands disease
Von Willebrand disease is the most common inherited bleeding disorder, caused by mutations that impair the function or production of von Willebrand factor. There are three main types - type 1 is characterized by a quantitative deficiency, type 2 involves qualitative defects, and type 3 is the rarest form with extremely low von Willebrand factor levels. Patients typically present with mucocutaneous bleeding or bleeding after trauma or surgery. Diagnosis involves testing von Willebrand factor antigen levels, activity, and multimers. Treatment options include desmopressin, von Willebrand factor replacement, antifibrinolytics, and adjuvant therapies depending on severity and bleeding history.
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Down syndrome is a genetic disorder caused by an extra chromosome 21, resulting in lifelong intellectual disability, developmental delays, and other issues. It varies in severity from moderate to serious problems. Over 90% of cases are caused by trisomy 21, where a person has three copies of chromosome 21. Down syndrome causes distinct facial features, poor muscle tone, and slower development of skills. With increased understanding and early intervention, people with Down syndrome can expect to live into their 50s and beyond.
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3. Mosaicism: A mix of cells with different chromosomal makeup.
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Factors affecting growth and development /certified fixed orthodontic courses...Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.Down syndrome student copy.pptx
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It is the most common chromosomal anomaly, occurring in about 1 in 800 to 1000 live births. People with Down syndrome often experience cognitive delays, characteristic facial features, and health issues such as congenital heart defects and thyroid problems. Treatment focuses on medical care, physical therapy, occupational therapy, and speech therapy to help patients develop skills and manage health conditions. Life expectancy has increased to 50-55 years with proper support and treatment.
9. birthmarks and naevi
This document provides an overview of common birthmarks and naevi (moles). It discusses the main types including melanocytic naevi (moles), vascular birthmarks like infantile haemangiomas and vascular malformations, Mongolian spots, and sebaceous naevi. While most birthmarks are harmless and need no treatment, some like large congenital melanocytic naevi, ulcerating haemangiomas, or vascular malformations associated with other conditions may require management with treatments like laser therapy or medications.
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Syndromes /certified fixed orthodontic courses by Indian dental academy
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Factors affecting growth and development /certified fixed orthodontic courses...
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Williams Syndrome susquenita
- 2. Williams syndrome includes upturn nose, long upper lip, wide mouth, full lips, small chin and puffiness around the eyes.
- 3. The chromosome it affects is chromosome 7 . Missing material on the chromosome
- 4. Williams syndrome affects boys and girls equally. It happens at a young age like infants.
- 5. Some affects of William syndrome are learning disorder mild mental retardationvery friendly, fearing loud sounds.
- 6. The parts of the body effects is all the parts of the body face, brain etc.
- 7. There is no cure for Williams syndrome but many affected children and adults lead full and active lives.
- 8. This is what Williams syndrome related toBeuren Syndrome Early Hypercalcemia Syndrome with Elfin Facies Elfin Facies with Hypercalcemia Hypercalcemia-Supravalar Aortic Stenosis WBS Williams-Beuren Syndrome WMS
- 9. In the early 1990s, researchers located and identified the genetic mutation responsible for the disorder: the deletion of a small section of chromosome 7 that contains approximately 25 genes
- 10. Three things I didn’t tell you isit is a very rare diseasein 1/10,000 births it occurs
- 11. works cited http://www.williams –syndrome.org/forparents/whatiswilliams.html#1 http:b//learn.genetics.utah.edu/content/disorders/whataregd/williams/ http://ghr.nlm.nih.gov/condition=williamssyndrome http://www.ninds.nih.gov/disorders /Williams/Williams.htm http://www.ninds.nihgov/disorders/williams/williams.htm