Williams Syndrome
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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.
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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 susquenita
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.
Williams Syndrome
Want to learn about Williams Syndrome? Well...here is a slide show that tells you the cover story behind Williams Syndrome. Enjoy.
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.
Turner’s Syndrome Project
Turner's syndrome is a genetic condition that affects females and is caused by partial or complete absence of one of the X chromosomes. It occurs in about 1 in 2,500 live female births. Common symptoms include short stature, underdeveloped or absent sexual organs, swollen hands and feet, eye problems, and heart issues. While Turner's syndrome cannot be cured, treatment focuses on hormone replacement, surgery, and lifestyle management to address symptoms and health complications.
Down Syndrome
Down syndrome is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material causes developmental delays and other issues. Down syndrome can range from mild to severe depending on the individual. The majority of Down syndrome cases are not inherited and are caused by random errors during cell division. Common physical signs include a flattened face, small ears and mouth, upward slanting eyes, and decreased muscle tone at birth. The risk of having a child with Down syndrome increases with the mother's age. Screening tests during pregnancy can detect 87% of Down syndrome cases. Diagnostic tests like amniocentesis or CVS can confirm a Down syndrome diagnosis. Individuals with Down syndrome may experience health
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder caused by a missing part of chromosome 5, affecting an estimated 1 in 20,000 to 50,000 live births. It is usually not inherited from parents and more commonly found in females. While the condition cannot be cured, symptoms such as feeding issues and speech delays can be treated through early therapy. Parents are also advised to seek counseling.
Cri du chat syndrome,
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5.[1] Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.
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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 susquenita
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.
Williams Syndrome
Want to learn about Williams Syndrome? Well...here is a slide show that tells you the cover story behind Williams Syndrome. Enjoy.
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.
Turner’s Syndrome Project
Turner's syndrome is a genetic condition that affects females and is caused by partial or complete absence of one of the X chromosomes. It occurs in about 1 in 2,500 live female births. Common symptoms include short stature, underdeveloped or absent sexual organs, swollen hands and feet, eye problems, and heart issues. While Turner's syndrome cannot be cured, treatment focuses on hormone replacement, surgery, and lifestyle management to address symptoms and health complications.
Down Syndrome
Down syndrome is a genetic condition where a person has three copies of chromosome 21 instead of the usual two. This extra genetic material causes developmental delays and other issues. Down syndrome can range from mild to severe depending on the individual. The majority of Down syndrome cases are not inherited and are caused by random errors during cell division. Common physical signs include a flattened face, small ears and mouth, upward slanting eyes, and decreased muscle tone at birth. The risk of having a child with Down syndrome increases with the mother's age. Screening tests during pregnancy can detect 87% of Down syndrome cases. Diagnostic tests like amniocentesis or CVS can confirm a Down syndrome diagnosis. Individuals with Down syndrome may experience health
Cri Du Chat Syndrome
Cri du chat syndrome is a rare genetic disorder caused by a missing part of chromosome 5, affecting an estimated 1 in 20,000 to 50,000 live births. It is usually not inherited from parents and more commonly found in females. While the condition cannot be cured, symptoms such as feeding issues and speech delays can be treated through early therapy. Parents are also advised to seek counseling.
Cri du chat syndrome,
Cri du chat syndrome, also known as chromosome 5p deletion syndrome, 5p− (said minus) syndrome or Lejeune’s syndrome, is a rare genetic disorder due to a missing part (deletion) of chromosome 5.[1] Its name is a French term (cat-cry or call of the cat) referring to the characteristic cat-like cry of affected children.[2] It was first described by Jérôme Lejeune in 1963.
Turners syndrome
Turner syndrome is a genetic abnormality that affects females and occurs in approximately 1 in 2,000 live births. It results from partial or complete absence of the second X chromosome due to nondisjunction of chromosomes from the father. Clinical features include swelling of the neck and hands, congenital heart defects, short stature, and underdeveloped or absent female sex characteristics. Diagnosis is made through prenatal testing or by analyzing the chromosomes after birth. Treatment focuses on managing symptoms.
Genetic & ;Development Disorders Down's syndrome.
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Down syndrome
Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 700 live births. Clinical features include intellectual disability, characteristic facial features such as a flat face, upward slanted eyes, and a protruding tongue. Individuals with Down syndrome also have an increased risk of certain medical conditions such as congenital heart defects and thyroid problems. Prenatal screening and diagnostic tests can identify Down syndrome in utero. Lifelong medical care is important to monitor development, screen for associated conditions, and support quality of life.
Turner syndrome
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Turner's syndrome
Turner syndrome is a genetic condition where females are missing an entire or partial X chromosome. It affects about 1 in 2,500 baby girls. Common characteristics include short stature and lack of ovarian development leading to infertility. While it cannot be passed down from parent to child, it is typically caused during egg formation when chromosomes fail to separate properly. Diagnosis involves a karyotype blood test and treatment focuses on hormone replacement therapy to promote normal development and replace missing hormones.
1. down syndrome
Down syndrome is a genetic disorder which is associated of mental retardation and intellectual disabilities
The physiotherapy can help to manage of children with down syndrome
Turner syndrome
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
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.
Edward syndrome
Edward syndrome, also known as Trisomy 18, is a chromosomal condition caused by the presence of an extra copy of chromosome 18. It is associated with abnormalities in many parts of the body and was first described by John H. Edwards in 1960. Affected individuals often have physical characteristics like low birth weight, small head size, malformed ears and heart defects. Treatment focuses on palliative care as the condition is often fatal, with the majority of children passing away within their first year. Those who survive longer experience severe developmental delays.
Down Syndrome
Down Syndrome occurs when there is an extra chromosome on the 21st chromosome. This leads to certain physical characteristics and health issues. While there is no cure, treatments can help address medical problems and therapy can help with skills. Research continues to seek a cure and help future patients.
Turners Syndrome
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
congenitalcadiac diseases.pptx
congenital heart disease is a heart defect, it is caused by the exposure of teracogenic substances during pregnancy ,it may lead to the congenital defect .
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Edward syndrome
This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Cri du chat syndrome
Jerome Le Jeune discovered Cri du Chat syndrome in 1963, which is caused by a malformed larynx and results in a cat-like cry in infants. People with Cri du Chat syndrome experience difficulties with speech, being understood, and walking, which can be frustrating for them and their families. It is a rare genetic disorder caused by a deletion within chromosome 5, and while there is no cure, treatments focus on physical, occupational, and speech therapies to help manage symptoms.
Klinefelter syndrome
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
Down Syndrome
Down syndrome is caused by trisomy 21, where there is an extra copy of chromosome 21 in each cell. There are three main types of chromosome abnormalities that cause Down syndrome - trisomy 21 (95%), translocation (3-4%), and mosaicism (1%). Advanced maternal age is a risk factor, with the risk increasing from 1 in 1500 for women aged 15-29 to 1 in 50 for women aged 45 and above. Down syndrome is not inherited in a simple Mendelian pattern, and the risk of recurrence depends on the specific chromosomal abnormality involved.
Klinefelter’s Syndrome
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
Marfan syndrome
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Asoc. William Syndrome
The document summarizes the mission and activities of AWSR, an organization that supports families dealing with Williams syndrome. AWSR was founded by a group of parents dealing with Williams syndrome who wanted to help other families by sharing information. Currently, AWSR runs a website and outreach campaigns to raise awareness. Their goals are to identify more individuals with Williams syndrome, create a specialized team, and open a daycare center to provide support and therapies.
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Turners syndrome
Turner syndrome is a genetic abnormality that affects females and occurs in approximately 1 in 2,000 live births. It results from partial or complete absence of the second X chromosome due to nondisjunction of chromosomes from the father. Clinical features include swelling of the neck and hands, congenital heart defects, short stature, and underdeveloped or absent female sex characteristics. Diagnosis is made through prenatal testing or by analyzing the chromosomes after birth. Treatment focuses on managing symptoms.
Genetic & ;Development Disorders Down's syndrome.
Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8- or 9-year-old child, but this can vary widely.
Down syndrome
Down syndrome is a genetic condition caused by trisomy of chromosome 21. It occurs in about 1 in 700 live births. Clinical features include intellectual disability, characteristic facial features such as a flat face, upward slanted eyes, and a protruding tongue. Individuals with Down syndrome also have an increased risk of certain medical conditions such as congenital heart defects and thyroid problems. Prenatal screening and diagnostic tests can identify Down syndrome in utero. Lifelong medical care is important to monitor development, screen for associated conditions, and support quality of life.
Turner syndrome
If my presentation was useful for you, you maybe could support me with some donation. Thanks
Paypal: mostafabkh
Turner's syndrome
Turner syndrome is a genetic condition where females are missing an entire or partial X chromosome. It affects about 1 in 2,500 baby girls. Common characteristics include short stature and lack of ovarian development leading to infertility. While it cannot be passed down from parent to child, it is typically caused during egg formation when chromosomes fail to separate properly. Diagnosis involves a karyotype blood test and treatment focuses on hormone replacement therapy to promote normal development and replace missing hormones.
1. down syndrome
Down syndrome is a genetic disorder which is associated of mental retardation and intellectual disabilities
The physiotherapy can help to manage of children with down syndrome
Turner syndrome
Turner syndrome is a genetic condition where a female is missing an X chromosome. It was discovered by Henry Turner in 1938. Common symptoms include short stature, swollen hands and feet at birth, and issues developing menstrual periods and breasts without hormone treatment. Those with Turner syndrome also often have heart defects, diabetes, and vision or hearing problems. While there is no cure, treatment can help increase height and promote breast and hip development. Turner syndrome occurs in about 1 in 2000 to 1 in 5000 females and is usually not inherited from parents.
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.
Edward syndrome
Edward syndrome, also known as Trisomy 18, is a chromosomal condition caused by the presence of an extra copy of chromosome 18. It is associated with abnormalities in many parts of the body and was first described by John H. Edwards in 1960. Affected individuals often have physical characteristics like low birth weight, small head size, malformed ears and heart defects. Treatment focuses on palliative care as the condition is often fatal, with the majority of children passing away within their first year. Those who survive longer experience severe developmental delays.
Down Syndrome
Down Syndrome occurs when there is an extra chromosome on the 21st chromosome. This leads to certain physical characteristics and health issues. While there is no cure, treatments can help address medical problems and therapy can help with skills. Research continues to seek a cure and help future patients.
Turners Syndrome
Turner syndrome is a genetic condition that affects development in girls caused by a missing or partial X chromosome. It was first described in 1938 by Dr. Henry Turner. Common characteristics include short stature, ovarian dysfunction leading to infertility, and heart defects. Diagnosis involves chromosome analysis from amniocentesis or blood tests. Treatment may include growth hormone, estrogen therapy, and assisted reproduction. Research continues on treatments and managing associated health problems throughout life.
congenitalcadiac diseases.pptx
congenital heart disease is a heart defect, it is caused by the exposure of teracogenic substances during pregnancy ,it may lead to the congenital defect .
Patau syndrome
Patau syndrome, also known as trisomy 13, is a rare genetic disorder caused by the presence of an extra chromosome 13. It affects about 1 in 12,000 live births and causes severe intellectual and physical disabilities. Common signs include microcephaly, eye abnormalities, cleft palate, extra fingers or toes, and heart defects. While there is no cure, surgery can address some physical defects, though over 80% of infants with Patau syndrome do not survive past their first year.
Edward syndrome
This document provides information about Edwards syndrome, also known as Trisomy 18. It is a rare chromosomal disorder caused by the presence of an extra copy of chromosome 18. The key symptoms include intellectual disability, heart defects, and abnormalities of the hands and feet. Diagnosis is often made through blood tests to analyze chromosomes or through ultrasound screening. Treatment focuses on managing symptoms, as there is currently no cure. Life expectancy is poor, with over 90% of children passing away within the first year. The document outlines the different types of Edwards syndrome and provides some background on its discovery and causes.
Turner syndrome
Turner Syndrome is a chromosomal condition that affects females and occurs in about 1 in 2,500 births. It is caused by a full or partial missing of the second X chromosome, resulting in a karyotype of 45,XO. Clinical features include short stature, lack of sexual development at puberty, and other health issues. Diagnosis can be made at birth based on symptoms or later in life if a person does not grow or develop normally. Treatment involves growth hormone injections, estrogen replacement therapy, and monitoring for conditions like heart problems, ear infections, and high blood pressure.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.
Cri du chat syndrome
Jerome Le Jeune discovered Cri du Chat syndrome in 1963, which is caused by a malformed larynx and results in a cat-like cry in infants. People with Cri du Chat syndrome experience difficulties with speech, being understood, and walking, which can be frustrating for them and their families. It is a rare genetic disorder caused by a deletion within chromosome 5, and while there is no cure, treatments focus on physical, occupational, and speech therapies to help manage symptoms.
Klinefelter syndrome
Klinefelter syndrome is a genetic condition that results from two or more X chromosomes in males who normally have one X and one Y chromosome. It occurs in around 1 in 500-1000 live male births. Signs and symptoms vary by age but may include weaker muscles, slower development, less body hair, enlarged breasts, smaller testes, and infertility. Diagnosis is made through a karyotype blood test detecting the extra X chromosome. While there is no cure, testosterone treatment can help develop secondary sex characteristics and managing health issues.
Down Syndrome
Down syndrome is caused by trisomy 21, where there is an extra copy of chromosome 21 in each cell. There are three main types of chromosome abnormalities that cause Down syndrome - trisomy 21 (95%), translocation (3-4%), and mosaicism (1%). Advanced maternal age is a risk factor, with the risk increasing from 1 in 1500 for women aged 15-29 to 1 in 50 for women aged 45 and above. Down syndrome is not inherited in a simple Mendelian pattern, and the risk of recurrence depends on the specific chromosomal abnormality involved.
Klinefelter’s Syndrome
07-08-2013
Faculty of medicine of Syrian Private University.
Please LIKE my page! http://facebook.com/NawrasAlHalabi
متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة
What's hot (20)
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Marfan syndrome
1. Marfan syndrome is an inherited disorder of connective tissue that affects many parts of the body, including the skeletal, ocular, cardiovascular and pulmonary systems.
2. It is caused by mutations in the FBN1 gene which results in abnormal fibrillin protein and connective tissue abnormalities.
3. Diagnosis is based on assessments of the skeletal, ocular, cardiovascular and other body systems compared to established diagnostic criteria such as the Ghent nosology, with a focus on assessments of the aorta and lenses.
Asoc. William Syndrome
The document summarizes the mission and activities of AWSR, an organization that supports families dealing with Williams syndrome. AWSR was founded by a group of parents dealing with Williams syndrome who wanted to help other families by sharing information. Currently, AWSR runs a website and outreach campaigns to raise awareness. Their goals are to identify more individuals with Williams syndrome, create a specialized team, and open a daycare center to provide support and therapies.
12. cobey marfan syndrome
Marfan Syndrome is a genetic disorder of the connective tissue that is inherited in an autosomal dominant pattern. It is caused by mutations in the FBN1 gene which encodes the protein fibrillin-1. Common signs include tall stature, long limbs, long fingers, joint laxity, scoliosis, chest deformities, eye problems like nearsightedness, and aortic root dilation. Dentally, patients often have a high-arched palate, crowded teeth, and may require orthodontic or orthognathic treatment. Surgery must be carefully coordinated with a cardiologist due to risks of aortic complications.
Ring chromosome 7
This case report describes a 25-year-old Indian woman found to have ring chromosome 7 [r(7)], representing the fourth reported female case and the first from India. Clinical findings revealed microcephaly, growth delay, and dark pigmented naevi. Cytogenetic analysis found a mosaic karyotype of 46,XX/46,XX,r(7) with the ring chromosome present in 10% of cells. The presence of growth delay, pigmented lesions, and microcephaly in this case are consistent with characteristics commonly seen in other reported cases of ring chromosome 7.
Pendred syndrome
Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the SLC26A4 gene which encodes a protein that functions as a chloride-iodide transporter. Key features include bilateral deafness that is usually present at birth, development of a goiter during adolescence or adulthood, and imaging findings of an enlarged vestibular aqueduct and Mondini defect in the cochlea. Diagnosis is confirmed by identifying biallelic mutations in SLC26A4 in an individual with hearing loss and thyroid abnormalities. Long term monitoring is recommended due to risk of goiter
Language impairment Presentation
This presentation discusses late talkers and specific language impairment. Late talkers are identified at age 2 when they produce fewer than 50 words and do not combine words. Specific language impairment is a language impairment without other issues, where nonverbal skills are normal. It affects around 7% of children and persists into adulthood. The presentation reviews predicting, diagnosing, and helping late talkers versus those with specific language impairment. Parents and teachers can help late talkers through techniques like self-talk, parallel talk, and expanding on a child's words. A speech pathologist diagnoses specific language impairment through language testing.
Silver –russell syndrome
Este documento resume el Síndrome de Silver-Russell, un síndrome genético raro caracterizado por retraso en el crecimiento prenatal y postnatal, macrocefalia relativa, cara triangular y crinodactilia del quinto dedo. Se han encontrado varias aberraciones cromosómicas en los cromosomas 7, 11 y 17 que se asocian con este síndrome, incluidas deleciones y duplicaciones en estas regiones. El documento también discute los genes específicos en estos cromosomas que pueden estar involucrados.
Auditory processing disorder (APD) and specific language impairment
1) The document discusses auditory processing disorder (APD) and debates whether difficulties on auditory tests are caused by auditory problems or other issues like language impairment.
2) Two options are presented: APD involves higher-level brain abnormalities or problems are not auditory and instead caused by limitations in attention, memory or language.
3) Many interventions for APD lack strong evidence and more research with controls is needed to identify most effective treatments.
Student Work Rett Syndrome
Rett syndrome is a rare genetic disorder that affects brain development, primarily in girls. It is caused by mutations in the MECP2 gene and begins with normal development followed by loss of motor and communication skills. Symptoms include loss of speech, hand movements, irregular breathing patterns, and cognitive impairments. While there is no cure, treatment aims to manage symptoms through physical, occupational, and speech therapy. Research continues to study the genes involved to better understand the condition.
Aberrações cromôssomicas
O documento descreve algumas síndromes cromossômicas, incluindo a Síndrome de Down, que é causada por trissomia do cromossomo 21, e apresenta características como deficiência mental e fendas palpebrais. Também descreve a Síndrome Cri du Chat, causada por deleção no cromossomo 5, e a Síndrome de Cornélia de Lange, caracterizada por retardo mental severo e baixa estatura.
Noonan syndrome
Noonan syndrome is a genetic disorder recognized in 1963 by Dr. Jacqadine Noonan, characterized by abnormal facial features, short stature, heart defects, bleeding problems, and skeletal malformations. It affects 1 in 1000 to 2500 people equally among males and females. Genetic testing and assessments of development are used to investigate potential cases, while management is problem-based without specific treatment and aims to address complications like heart issues, low self-esteem, and social difficulties related to physical abnormalities.
Jacob syndrome
Jacob's syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome, so those affected have one X and two Y chromosomes rather than the typical one X and one Y. Those with Jacob's syndrome may experience learning problems, delayed emotional maturity, speech problems, and tall, thin physique with acne and reading difficulties. The condition occurs when a male inherits two Y chromosomes instead of the usual one from his father, making him an XYY male, rather than the more common XY male. The exact cause of this extra Y chromosome is unknown.
Marfan Syndrome
Marfan syndrome is a genetic disorder that affects connective tissue, causing abnormal growth and development. It is inherited in an autosomal dominant pattern due to a mutation in the FBN1 gene on chromosome 15. If one parent has Marfan syndrome, a child has a 50% chance of inheriting the condition. While there is no cure, treatment options can help manage symptoms and prevent complications.
Greig Cephalopolysyndactyly Syndrome
Greig Cephalopolysyndactyly Syndrome (GCPS) is a rare genetic disorder caused by mutations in the GLI3 gene. Patients have abnormalities of the skull, face and limbs including syndactyly and polydactyly. The GLI3 gene codes for a transcription factor involved in limb development and is a negative regulator of the Sonic hedgehog pathway. While two cases of GCPS presented with medulloblastomas, the association between GLI3 mutations and brain tumors is unclear.
Finaale pulmonary stenosis
This document discusses pulmonary stenosis (PS), a congenital heart defect where the pulmonary valve is narrowed. It accounts for 20-30% of congenital heart disease. PS can be valvular, subvalvular, or supravalvular. Symptoms range from none to right heart failure. Diagnosis involves listening for a systolic murmur and click, and imaging like echocardiogram and catheterization to measure pressures and gradients. Treatment is usually balloon valvuloplasty or surgery if severe.
Ch6 chromosomal aberrations
Presenting on the chromosomal aberration both in structure and number. Insight view in some disorders caused by chromosomal aberration including down syndrome, Patau syndrome, Edward syndrome and XY sex chromosome.
Sindrome de russel silver
El documento describe el síndrome de Russell-Silver, un trastorno genético raro caracterizado por bajo peso al nacer, estatura baja y otras anomalías. Se identificaron varias mutaciones genéticas asociadas con el síndrome, incluidas mutaciones en los cromosomas 7 y 11, aunque ninguna es específica. El síndrome se diagnostica con al menos tres de los cinco criterios mayores y dos de los criterios menores descritos. Los estudios encontraron que las manifestaciones son más graves en los pacientes con mayores niveles de hipometil
Noonan syndrome
A 3-year-old male child was admitted with cough, cold, and breathlessness for 7 days. He had a history of recurrent respiratory infections and was diagnosed with a congenital heart disease at 7 months. Noonan syndrome is a relatively common genetic disorder that affects both males and females equally. It is characterized by short stature, congenital heart defects, learning disabilities, and distinctive facial features such as hypertelorism, downslanting eyes, and low-set ears. The child exhibited several clinical manifestations associated with Noonan syndrome including pulmonary stenosis, septal defects, and developmental delays.
How specific is SLI - slides
1) Specific language impairment (SLI) is identified when a child's language development falls significantly behind peers without an obvious medical cause like hearing loss, slow general development, brain damage, or physical abnormalities.
2) SLI often co-occurs with other neurodevelopmental disorders like dyslexia, ADHD, autism spectrum disorder, and developmental coordination disorder.
3) The boundaries between SLI and other conditions are unclear as the same child may receive different diagnoses depending on the assessing clinician, and underlying genetic factors may increase risks for multiple related impairments.
Edward’s syndrome (trisomy 18)
My tomorrow's presentation for my Pediatrics report, tackling Edward's syndrome, also known as Trisomy 13. :)
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Auditory processing disorder (APD) and specific language impairment
Auditory processing disorder (APD) and specific language impairment
Similar to Williams Syndrome
Sickle Cell Anemia
Sickle cell Anemia is known as being a fatal hereditary form of anemia, it is recognized by its abnormal red blood cells having a crescent shape due to the effect of hemoglobin S found in the cells.
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In the United States approximately 1 in every 375 African Americans are born with Sickle Cell Disease each year.
Sickle Cell Anemia is most common among people whose ancestors came from sub-Saharan Africa; Spanish-speaking regions in the Western Hemisphere (South America, the Caribbean, and Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.
Sickle Cell Anemia occurs more often among people from parts of the world where Malaria is common.
Interesting Fact: People who have the sickle cell trait, (gene) are less likely to have severe forms of Malaria.
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EdwardsII
Edwards Syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra chromosome 18. It is the second most common autosomal trisomy after Down syndrome. Individuals with Edwards Syndrome often have heart and kidney abnormalities as well as other organ disorders. They typically have low chances of survival, with most infants dying before or shortly after birth from complications. Support groups are available for families affected by Edwards Syndrome.
Edwards
Edwards Syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra chromosome 18. It is the second most common autosomal trisomy after Down syndrome. Individuals with Edwards Syndrome often have intellectual disabilities, heart defects, kidney abnormalities, and other internal organ disorders. Most infants with Edwards Syndrome die before or shortly after birth, with the median lifespan being only 5 to 15 days. Very few individuals with Edwards Syndrome survive past one year of age.
Anaemia: Symptoms, Types, Causes & Treatment
Anaemia: Symptoms, Types, Causes & Treatment
Anaemia is a lack of Hemoglobin and red blood cells in the body. Red blood cells and hemoglobin, the molecules in red blood cells that make them red, are important because they carry oxygen from the lungs to other body parts.
Oxygen is very important to us and our body parts. So It is very important to find and treat the cause of the anemia as well as the anemia itself. Might be you have no symptoms of Anemia.
Symptoms of Anaemia
Anemia signs and symptoms vary depending on the cause and severity of anemia. Depending on the causes of your anemia, you might have no symptoms.
You will be short of breath and feel tired, even when doing things you could usually do easily.
You may also have a fast or irregular heartbeat.
Have cold feet or hands.
Look pale.
Having fatigue.
Chest pain.
Feel dizzy or faint.
Having headaches.
Types of anemia
There are three types of anemia
Mild hemoglobin in the body is around 10 to 11 g / dL which is called mild anemia.
Moderate- Hemoglobin is 8 to 9 g / dL it is called moderate anemia.
Severe -Severe anemia hemoglobin is less than 8 g / dL. This is a serious condition, in which it is also the turn of blood transfusion according to the condition of the patient.
Different types of anemia have different causes. They include:
Iron deficiency
Iron deficiency occurs as a result of a deficiency in the mineral iron in your body. It requires the production of hemoglobin, the component of the red blood cell that transports oxygen to your organs. Anemia due to a lack of iron can cause a variety of factors, including:
The diet, particularly in infants, children, teenagers, vegans, and vegetarians
Certain medications, meals, and caffeinated beverages
Crohn’s disease, or if a part of your stomach or small intestine has been removed, donating blood Endurance training Pregnancy and breastfeeding use up iron in your body
Your menstrual cycle
Chronic slow bleeding, mainly from the gastrointestinal tract, is a prevalent reason
Vitamin deficiency
When you don’t get enough vitamin B12 and folate, this can happen. These two vitamins are needed for the production of red blood cells. The following factors might cause this form of anemia:
Vitamin B12 deficiency: If you eat little or no meat, you may be deficient in this vitamin. You may not receive enough folate if you overcook veggies or don’t consume enough of them.
When you don’t get enough vitamin B12, folate, or both, you get megaloblastic anemia.
When your body doesn’t absorb enough vitamin B12, you get pernicious anemia.
Medications, alcohol misuse, and intestinal illnesses such as tropical sprue are further causes of vitamin insufficiency.
Anemia of inflammation
When your body doesn’t have enough hormones to generate red blood cells, this happens. This form of anemia is caused by the following conditions:
Kidney disease has progressed to an advanced stage.
Hypothyroidism
Long-term disorders such as cancer, infection, lupus, diabetes.
Hemophilia
Hemophilia is a hereditary bleeding disorder caused by a deficiency of specific clotting factors, which prevents normal blood clotting. The two main types are hemophilia A caused by a factor VIII deficiency and hemophilia B caused by a factor IX deficiency. Symptoms include excessive bleeding, easy bruising, and bleeding into joints. It is usually passed from mother to son and is treated through replacement of the deficient clotting factor. Nursing care focuses on prevention of injury, control of bleeding episodes, and prevention of joint damage.
Prader Willi Syndrome: Information
Prader Willi Syndrome is caused by a genetic mutation found on chromosome 15. Symptoms include rapid weight gain, constant hunger, distinct facial features, learning disabilities, and delayed development. Treatments focus on special diets and hormone therapies to manage symptoms, which can be life threatening if not properly treated. Research on Prader Willi Syndrome is ongoing at various centers worldwide.
Prader Willi Syndrome: Information
Prader Willi Syndrome is caused by a genetic mutation found on chromosome 15. Symptoms include rapid weight gain, constant hunger, distinct facial features, learning disabilities, and delayed development. Treatments focus on special diets and hormone therapies to manage symptoms, which can be life threatening if not properly treated. Research on Prader Willi Syndrome is ongoing at various centers worldwide.
Hallermann streiff syndrome
Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. There are fewer than 200 people with the syndrome worldwide
Presentation1 sickle cell.pptx
This document provides information on sickle cell anemia, thalassemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency. It defines each condition, describes symptoms, causes, types, complications, diagnosis, treatment and prevention. Sickle cell anemia is caused by a genetic mutation and causes rigid, sticky red blood cells. Thalassemia is also genetic and causes low hemoglobin levels. G6PD deficiency is inherited and causes red blood cell breakdown when exposed to certain triggers. Management involves avoiding triggers for all three conditions.
Down syndrome
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. It is associated with physical growth delays, distinctive facial features, and mild to moderate intellectual disabilities. The average IQ of a young adult with Down syndrome is equivalent to an 8- or 9-year-old, but IQ levels vary widely. Common health issues for those with Down syndrome include congenital heart disease, thyroid problems, vision and hearing disorders, and susceptibility to leukemia. While individuals with Down syndrome have some intellectual disabilities, they should be treated with dignity and respect.
Disease states associated with fat soluble vitamins
This document discusses diseases associated with fat-soluble vitamins. It covers night blindness and xerophthalmia associated with vitamin A deficiency, which can damage the eyes. Rickets, caused by vitamin D deficiency, results in weak and soft bones. Osteoporosis is discussed as being linked to vitamin D levels as well. Vitamin E deficiency can cause hemolytic anemia, where red blood cells are destroyed faster than they can be replaced. The document also covers vitamin K deficiency bleeding in newborns.
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Anemia
Anemia is a medical condition where red blood cell count or hemoglobin levels are lower than normal. Normal hemoglobin levels are over 13.5 g/100 ml for men and over 12.0 g/100 ml for women. Anemia prevalence is 27% in developing countries and 6% in developed countries. Anemia can be caused by poor diet, infections, blood loss, and other factors. Left untreated, anemia can cause fatigue, heart problems, pregnancy complications, and even death in severe cases.
Prader Willi: Information
Prader Willi Syndrome is caused by a genetic mutation on chromosome 15. Symptoms include rapid weight gain, constant hunger, distinct facial features, learning disabilities, and physical disabilities. While there is no known cure, treatment focuses on special diets, hormone therapy, and psychiatric/medical care to help manage symptoms and quality of life.
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Disease states associated with fat soluble vitamins
Disease states associated with fat soluble vitamins
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Waardenburg Syndrome
Waardenburg Syndrome is an inherited disorder characterized by hearing loss and changes in hair and skin pigmentation. There are four types, with types I and II being most common. It is caused by a dominant gene mutation and symptoms may include deafness, pale eye color, and patchy hair loss. While symptoms are present at birth, diagnosis is usually made in infancy through tests like audiometry and genetic testing. Treatment focuses on managing hearing loss and other symptoms, as there is no cure for the underlying condition.
Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy is a disease that causes rapidly worsening muscle weakness due to a lack of the protein dystrophin. It is inherited through an X-linked recessive gene, so it primarily affects boys. Symptoms begin in the legs and include fatigue, difficulty walking, and muscle weakness that gets worse over time and spreads to other muscles. There is no cure, and those affected often require use of a wheelchair by their early teens and don't survive past late teens or early adulthood.
Sickle Cell Anemia
Sickle cell anemia is a genetic blood disorder where red blood cells become stiff and sickle-shaped, blocking blood flow and damaging organs. It occurs when someone inherits two sickle cell genes, one from each parent. People with one sickle cell gene have sickle cell trait and do not have the disease but can pass the gene to their children. More than 70,000 Americans have sickle cell anemia and about 2 million have sickle cell trait. It is particularly common among African Americans, affecting about 1 in 12.
Fibrodysplasia Ossifcans Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder where muscle and connective tissue is gradually replaced by bone. It causes joints to become permanently frozen in place. While extra bone growth can be surgically removed, it will regrow. FOP is caused by a mutation that is inherited and passed down generations. Symptoms at birth may include great toes that are missing joints or have lumps. As the condition progresses, lumps and tumors develop on bones throughout the body. Currently there is no cure for FOP, and avoiding injury can help limit extra bone growth.
Hemophilia
Hemophilia is a disease where the blood is too thin and cannot clot properly, causing prolonged bleeding from cuts or injuries. It is inherited through family lines and is more common in males. Symptoms include bleeding that does not stop as it normally would. Diagnosis involves testing by a doctor if bleeding issues are noticed or if there is a family history of hemophilia. It affects around 18,000 people in the United States and is treated by replacing the missing clotting factors through intravenous injections.
Marfan Syndrome
Marfan Syndrome is a connective tissue disorder that affects most organs and tissues, especially the lungs, eyes, and heart. It is caused by a defect in the gene that produces connective tissue and is inherited in an autosomal dominant pattern, meaning there is a 50% chance of passing it down to offspring. Symptoms include being unusually tall and thin with long limbs and fingers, as well as eye and heart problems. While there is no cure, treatment and surgery can help improve outcomes and lifespan. Famous Olympic swimmer Michael Phelps has Marfan Syndrome.
Huntington's Disease
Huntington's disease is a genetic disorder that causes certain nerve cells in the brain to break down over time. It is inherited in an autosomal dominant pattern, meaning only one parent needs to carry the gene for a child to be at risk. Common symptoms include behavioral changes, abnormal movements, dementia, and difficulty swallowing and speaking. While there is no cure, lifestyle interventions including diet, supplements, exercise and social support can help manage symptoms and potentially delay onset. The disease is caused by destruction of cells in the basal ganglia and approximately 1 in 33,333 people in the US are affected.
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
Werners Syndrome
Werner syndrome is a rare genetic disorder characterized by premature aging symptoms beginning in early adulthood such as graying hair, a thin body build, and bird-like facial features. It is caused by mutations in the WRN gene and inherited in an autosomal recessive pattern. People with Werner syndrome typically die of heart disease or cancer in their late 40s or early 50s as their bodies age at an accelerated rate. There is no cure for Werner syndrome, but managing health conditions like diabetes and monitoring cholesterol levels is recommended.
Achondroplasia
Achondroplasia is a genetic condition that results in abnormally short limbs and an enlarged head. It is caused by mutations in the FGFR3 gene. Symptoms include bowed legs, prominent forehead, and abnormal finger spacing. While there is no cure, treatment focuses on supportive care and monitoring for potential spinal issues. The condition can be diagnosed before or after birth based on physical features and imaging tests.
Werners Syndrome
Werner syndrome is a rare genetic disorder that causes accelerated aging beginning in early adulthood. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive pattern. Physical symptoms include short stature, gray hair, cataracts, skin aging, and increased risk of cancers and heart disease. There is no treatment to stop or reverse the effects of Werner syndrome, but symptoms can be managed.
Fibrodysplasia Ossifican Progressiva
Fibrodysplasia ossificans progressiva (FOP) is an extremely rare genetic disorder where muscle tissue and connective tissue are gradually replaced by bone. It is caused by a mutation in the body's repair mechanism, causing extra bone to form following injuries. There is no treatment for FOP, and surgery can make it worse by triggering more bone growth. Most cases are caused by spontaneous genetic mutations, and those affected have very limited mobility as the condition progresses and more joints become frozen in place by extra bone formation.
Tay Sachs Disease
Tay-Sachs disease is a rare genetic disorder where harmful amounts of fat build up in nerve cells, causing seizures, loss of skills, and eventual death by age 5 in most cases. It is inherited when both parents carry a mutated gene and have a 25% chance of passing it to their child. Symptoms appear before 6 months of age and include losing abilities like smiling, crawling, and eye contact. Currently there is no cure, though supportive treatments can help manage symptoms. Testing for carriers is done with a blood test.
Sickle Cell
Sickle cell disease is an inherited blood disorder where red blood cells become misshapen and crescent-shaped. It causes episodes of pain and other symptoms like fatigue and jaundice. While there is no cure, treatment with medication can help manage symptoms though the disease remains. It is most common among those with ancestry from sub-Saharan Africa, South and Central America, Caribbean countries, and Mediterranean countries.
Hemophilia
Hemophilia is a rare inherited blood clotting disorder caused by deficient blood proteins. It is passed down from mother to son through genes on the X chromosome. Symptoms include prolonged bleeding from cuts or wounds and internal bleeding in joints that can lead to arthritis if untreated. Physicians test for hemophilia by ruling out other disorders and determining which clotting factor is deficient. About 1 in 4,000 males have the disorder. Treatment involves regularly injecting purified clotting factors to prevent or stop bleeding episodes.
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Williams Syndrome
- 2. Williams Syndrome: Is a rare genetic disorder that cause mental retardation, learning difficulties, distinctive facial appearance, and really bad anxiety.
- 3. Most cases of Williams Syndrome is not inherited but randomly happens when the reproductive cells are being produced. This disease happens to people that do not have any history of it. It’s considered to be an autosomal dominate condition because chromosome #7 is altered. How is Williams syndrome inherited?
- 4. Delayed of speech Developmental delay Easily distracted (ADD) Feeding problems Inward bend of small finger Mild to moderate mental retardation Narrowing of blood vessels What are the symptoms?
- 6. Looking for missing Chromosomes
- 9. There is no cure for Williams Syndrome but you can try and help the process by the following; Avoid taking extra calcium and vitamin D Physical/Speech therapy Keep on track of blood pressure Treatment for Williams Syndrome:
- 10. People with Williams syndrome often are overly friendly and sometimes referred to as “cock-tail party syndrome.” It is extremely unlikely that any other family member would have Williams Syndrome. Patients with this certain disease are always very skinny from the birth. People normally have blue eyes with a starry pattern Although this disease isn’t inherited there's a 50% chance that their children may have it. Interesting Information:
- 11. Lisa is a 22 year old woman who was diagnosed with Williams syndrome at the age of 14 months and is now going off to college. http://www.youtube.com/watch?v=7pyNe2TBQi8