Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21 in the body’s cells. This additional genetic material alters the course of development and results in characteristic physical features, intellectual disabilities, and a range of health complications.
Down syndrome is one of the most common genetic disorders and occurs in approximately 1 in 800 live births worldwide. While there is no cure for Down syndrome, early intervention, and supportive care can help affected individuals thrive and reach their full potential.
Epidemiology
Down syndrome is one of the most common genetic disorders worldwide, with an estimated incidence of approximately 1 in 800 live births. The incidence of Down syndrome increases with maternal age, with the risk of having a child with the condition rising significantly after the age of 35.
However, the majority of children with Down syndrome are born to mothers under the age of 35 due to the higher number of younger women giving birth. The prevalence of Down syndrome varies by region and ethnicity. In the United States, the prevalence of Down syndrome is higher in non-Hispanic white individuals compared to other racial and ethnic groups.
Prenatal screening and diagnostic tests, such as maternal serum screening, cell-free DNA testing, and chorionic villus sampling, can detect the presence of Down syndrome during pregnancy. The use of these tests has led to a decrease in the number of live births of infants with Down syndrome in some countries due to the increased availability of prenatal diagnosis and subsequent termination of affected pregnancies.
Anatomy
Pathophysiology
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (trisomy 21) in most or all cells of the body. The extra genetic material disrupts the normal development of the body and brain, leading to the characteristic features and medical problems associated with the condition. The overexpression of genes located on chromosome 21 affects many aspects of development and function in different organs and tissues.
Some of the pathophysiological changes that occur in Down syndrome include:
Abnormal brain development: The extra genetic material in chromosome 21 affects brain development, leading to changes in the size and structure of the brain. This can result in intellectual disability, delayed developmental milestones, and learning difficulties.
Cardiovascular abnormalities: Individuals with Down syndrome have a higher risk of congenital heart defects, which can affect the structure and function of the heart.
Immune system dysfunction: The immune system in individuals with Down syndrome may not function properly, leading to an increased risk of infections and autoimmune disorders.
Endocrine dysfunction: The extra genetic material in chromosome 21 affects the production and function of hormones, leading to endocrine disorders such as thyroid dysfunction, diabetes, and growth hormone deficiency.
Skeletal abnormalities: Individuals with Down syndrome may have skeletal abnormalities, including short stature, abnormalities of the spine, and an increased risk of osteoporosis.
Gastrointestinal abnormalities: Individuals with Down syndrome have an increased risk of gastrointestinal abnormalities such as esophageal atresia, duodenal atresia, and Hirschsprung’s disease. The severity and extent of these pathophysiological changes can vary among individuals with Down syndrome, leading to a wide range of clinical manifestations and medical complications.
Etiology
Down Syndrome is caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. In most cases, this extra chromosome is acquired spontaneously during the formation of the sperm or egg cell, leading to a zygote with three copies of chromosome 21 instead of the normal two.
This is known as non-disjunction. In some cases, Down Syndrome can be caused by a translocation, where a part of chromosome 21 breaks off and attaches to another chromosome. This can lead to extra genetic material from chromosome 21 being present in the resulting cells.
Rarely, Down Syndrome can be caused by mosaicism, where there is a mixture of cells with a normal number of chromosomes and cells with an extra copy of chromosome 21. This occurs when a non-disjunction event happens in one of the initial cell divisions following fertilization, leading to some cells with the normal number of chromosomes and some with an extra copy of chromosome 21.
Genetics
Prognostic Factors
The prognosis of Down Syndrome varies widely depending on the individual and the severity of their symptoms. People with Down Syndrome can have a range of medical, developmental, and cognitive issues, and their prognosis will depend on the severity and treatment of these issues. With proper medical care and early intervention, many individuals with Down Syndrome can lead healthy and fulfilling lives.
However, they may require ongoing medical management for conditions such as heart defects, hearing and vision problems, and thyroid dysfunction. Developmental delays and intellectual disability are also common in people with Down Syndrome, and early intervention therapies such as physical, occupational, and speech therapy can help improve developmental outcomes.
Educational interventions and support can also help individuals with Down Syndrome reach their full potential. Overall, while Down Syndrome can present significant challenges, with appropriate medical care, supportive interventions, and a positive social environment, many individuals with Down Syndrome can lead happy and fulfilling lives.
Clinical History
Clinical presentation
The clinical presentation of Down syndrome can vary widely, but individuals with the condition typically have some combination of the following physical and cognitive features:
Facial features: People with Down syndrome often have distinctive facial features, including a flat facial profile, small ears, upward-slanting eyes, a small nose, and a protruding tongue.
Intellectual disability: Individuals with Down syndrome typically have some degree of intellectual disability, with an average IQ of around 50. However, the level of intellectual functioning can vary widely from person to person.
Developmental delays: Children with Down syndrome often experience delays in reaching developmental milestones such as sitting, crawling, and walking.
Hypotonia: People with Down syndrome often have low muscle tone, which can affect their ability to sit up, stand, and walk.
Congenital heart defects: A significant percentage of individuals with Down syndrome are born with congenital heart defects, which can range from mild to severe.
Gastrointestinal problems: Individuals with Down syndrome are at an increased risk of developing gastrointestinal issues such as gastroesophageal reflux disease (GERD), constipation, and celiac disease.
Vision and hearing problems: People with Down syndrome may experience vision and hearing problems, including nearsightedness, farsightedness, and cataracts.
Respiratory infections: Individuals with Down syndrome are at an increased risk of developing respiratory infections such as pneumonia, bronchitis, and sinusitis.
It is important to note that not all individuals with Down syndrome will have all of these features, and the severity of the condition can vary widely from person to person.
Physical Examination
Physical examination
The physical examination of an individual with Down Syndrome may reveal various characteristic features, such as:
Facial features: A flattened facial profile, small head, upward slanting eyes with epicanthal folds, small ears, and a protruding tongue.
Hands and feet: Broad, short fingers with a single crease in the palm and a wide space between the first and second toes.
Musculoskeletal: Hypotonia (low muscle tone), joint hypermobility, and a wide space between the first and second toes.
Growth and development: Delayed growth, delayed motor skills, and intellectual disability.
Cardiac abnormalities: A significant proportion of individuals with Down Syndrome have congenital heart defects.
Hearing and vision problems: A high incidence of hearing and vision problems, including cataracts, glaucoma, and refractive errors.
Gastrointestinal problems: Gastrointestinal anomalies such as esophageal atresia and Hirschsprung disease are seen in a small proportion of individuals with Down Syndrome.
Endocrine disorders: Hypothyroidism is more commonly seen in individuals with Down Syndrome than in the general population.
It is important to note that not all individuals with Down Syndrome will exhibit all of these physical features, and the severity of the features can vary from person to person.
Age group
Associated comorbidity
Associated activity
Acuity of presentation
Differential Diagnoses
Differential diagnosis
The differential diagnosis of Down Syndrome includes:
Other chromosomal abnormalities: Other chromosomal abnormalities such as Turner syndrome, Klinefelter syndrome, and Cri-du-chat syndrome can cause intellectual disability and physical features that resemble Down Syndrome.
Fetal alcohol syndrome: Fetal alcohol syndrome can cause intellectual disability, growth problems, and distinctive facial features, which may be similar to those seen in Down Syndrome.
Prader-Willi syndrome: Prader-Willi syndrome is a genetic disorder that can cause intellectual disability, obesity, and distinctive facial features.
Fragile X syndrome: Fragile X syndrome is a genetic disorder that can cause intellectual disability, developmental delay, and distinctive physical features.
Williams syndrome: Williams syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and cardiovascular problems.
Noonan syndrome: Noonan syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and heart defects.
Hypothyroidism: Hypothyroidism can cause intellectual disability, growth problems, and other symptoms that may be mistaken for Down Syndrome.
It is important to note that these conditions have distinctive features that can help distinguish them from Down Syndrome, and a comprehensive evaluation by a medical professional is necessary to accurately diagnose the condition.
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Management of Down Syndrome involves a multidisciplinary approach to address the various medical, developmental, and educational needs of individuals with the condition.
Some common strategies for managing Down Syndrome include:
Medical management: Individuals with Down Syndrome may have a range of medical issues, such as heart defects, vision or hearing problems, and gastrointestinal issues. Medical management involves regular monitoring, screening, and treatment of any associated medical conditions.
Early intervention: Early intervention services, such as physical therapy, occupational therapy, and speech therapy, can help address developmental delays and improve overall function.
Education and special services: Children with Down Syndrome benefit from early educational interventions and may require special education services throughout their schooling. Education and special services can help address cognitive, communication, and social skills.
Support services: Families of individuals with Down Syndrome may require support services to help manage the challenges associated with the condition. Support services can include respite care, family counseling, and financial assistance programs.
Genetic counseling: Genetic counseling can provide families with information about the cause of Down Syndrome, the likelihood of having another child with the condition, and the options available for prenatal testing and screening.
It is important for individuals with Down Syndrome to have regular medical check-ups and ongoing support throughout their lives to optimize their health and well-being.
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References
https://www.ncbi.nlm.nih.gov/books/NBK526016/
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Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21 in the body’s cells. This additional genetic material alters the course of development and results in characteristic physical features, intellectual disabilities, and a range of health complications.
Down syndrome is one of the most common genetic disorders and occurs in approximately 1 in 800 live births worldwide. While there is no cure for Down syndrome, early intervention, and supportive care can help affected individuals thrive and reach their full potential.
Down syndrome is one of the most common genetic disorders worldwide, with an estimated incidence of approximately 1 in 800 live births. The incidence of Down syndrome increases with maternal age, with the risk of having a child with the condition rising significantly after the age of 35.
However, the majority of children with Down syndrome are born to mothers under the age of 35 due to the higher number of younger women giving birth. The prevalence of Down syndrome varies by region and ethnicity. In the United States, the prevalence of Down syndrome is higher in non-Hispanic white individuals compared to other racial and ethnic groups.
Prenatal screening and diagnostic tests, such as maternal serum screening, cell-free DNA testing, and chorionic villus sampling, can detect the presence of Down syndrome during pregnancy. The use of these tests has led to a decrease in the number of live births of infants with Down syndrome in some countries due to the increased availability of prenatal diagnosis and subsequent termination of affected pregnancies.
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (trisomy 21) in most or all cells of the body. The extra genetic material disrupts the normal development of the body and brain, leading to the characteristic features and medical problems associated with the condition. The overexpression of genes located on chromosome 21 affects many aspects of development and function in different organs and tissues.
Some of the pathophysiological changes that occur in Down syndrome include:
Abnormal brain development: The extra genetic material in chromosome 21 affects brain development, leading to changes in the size and structure of the brain. This can result in intellectual disability, delayed developmental milestones, and learning difficulties.
Cardiovascular abnormalities: Individuals with Down syndrome have a higher risk of congenital heart defects, which can affect the structure and function of the heart.
Immune system dysfunction: The immune system in individuals with Down syndrome may not function properly, leading to an increased risk of infections and autoimmune disorders.
Endocrine dysfunction: The extra genetic material in chromosome 21 affects the production and function of hormones, leading to endocrine disorders such as thyroid dysfunction, diabetes, and growth hormone deficiency.
Skeletal abnormalities: Individuals with Down syndrome may have skeletal abnormalities, including short stature, abnormalities of the spine, and an increased risk of osteoporosis.
Gastrointestinal abnormalities: Individuals with Down syndrome have an increased risk of gastrointestinal abnormalities such as esophageal atresia, duodenal atresia, and Hirschsprung’s disease. The severity and extent of these pathophysiological changes can vary among individuals with Down syndrome, leading to a wide range of clinical manifestations and medical complications.
Down Syndrome is caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. In most cases, this extra chromosome is acquired spontaneously during the formation of the sperm or egg cell, leading to a zygote with three copies of chromosome 21 instead of the normal two.
This is known as non-disjunction. In some cases, Down Syndrome can be caused by a translocation, where a part of chromosome 21 breaks off and attaches to another chromosome. This can lead to extra genetic material from chromosome 21 being present in the resulting cells.
Rarely, Down Syndrome can be caused by mosaicism, where there is a mixture of cells with a normal number of chromosomes and cells with an extra copy of chromosome 21. This occurs when a non-disjunction event happens in one of the initial cell divisions following fertilization, leading to some cells with the normal number of chromosomes and some with an extra copy of chromosome 21.
The prognosis of Down Syndrome varies widely depending on the individual and the severity of their symptoms. People with Down Syndrome can have a range of medical, developmental, and cognitive issues, and their prognosis will depend on the severity and treatment of these issues. With proper medical care and early intervention, many individuals with Down Syndrome can lead healthy and fulfilling lives.
However, they may require ongoing medical management for conditions such as heart defects, hearing and vision problems, and thyroid dysfunction. Developmental delays and intellectual disability are also common in people with Down Syndrome, and early intervention therapies such as physical, occupational, and speech therapy can help improve developmental outcomes.
Educational interventions and support can also help individuals with Down Syndrome reach their full potential. Overall, while Down Syndrome can present significant challenges, with appropriate medical care, supportive interventions, and a positive social environment, many individuals with Down Syndrome can lead happy and fulfilling lives.
Clinical presentation
The clinical presentation of Down syndrome can vary widely, but individuals with the condition typically have some combination of the following physical and cognitive features:
Facial features: People with Down syndrome often have distinctive facial features, including a flat facial profile, small ears, upward-slanting eyes, a small nose, and a protruding tongue.
Intellectual disability: Individuals with Down syndrome typically have some degree of intellectual disability, with an average IQ of around 50. However, the level of intellectual functioning can vary widely from person to person.
Developmental delays: Children with Down syndrome often experience delays in reaching developmental milestones such as sitting, crawling, and walking.
Hypotonia: People with Down syndrome often have low muscle tone, which can affect their ability to sit up, stand, and walk.
Congenital heart defects: A significant percentage of individuals with Down syndrome are born with congenital heart defects, which can range from mild to severe.
Gastrointestinal problems: Individuals with Down syndrome are at an increased risk of developing gastrointestinal issues such as gastroesophageal reflux disease (GERD), constipation, and celiac disease.
Vision and hearing problems: People with Down syndrome may experience vision and hearing problems, including nearsightedness, farsightedness, and cataracts.
Respiratory infections: Individuals with Down syndrome are at an increased risk of developing respiratory infections such as pneumonia, bronchitis, and sinusitis.
It is important to note that not all individuals with Down syndrome will have all of these features, and the severity of the condition can vary widely from person to person.
Physical examination
The physical examination of an individual with Down Syndrome may reveal various characteristic features, such as:
Facial features: A flattened facial profile, small head, upward slanting eyes with epicanthal folds, small ears, and a protruding tongue.
Hands and feet: Broad, short fingers with a single crease in the palm and a wide space between the first and second toes.
Musculoskeletal: Hypotonia (low muscle tone), joint hypermobility, and a wide space between the first and second toes.
Growth and development: Delayed growth, delayed motor skills, and intellectual disability.
Cardiac abnormalities: A significant proportion of individuals with Down Syndrome have congenital heart defects.
Hearing and vision problems: A high incidence of hearing and vision problems, including cataracts, glaucoma, and refractive errors.
Gastrointestinal problems: Gastrointestinal anomalies such as esophageal atresia and Hirschsprung disease are seen in a small proportion of individuals with Down Syndrome.
Endocrine disorders: Hypothyroidism is more commonly seen in individuals with Down Syndrome than in the general population.
It is important to note that not all individuals with Down Syndrome will exhibit all of these physical features, and the severity of the features can vary from person to person.
Differential diagnosis
The differential diagnosis of Down Syndrome includes:
Other chromosomal abnormalities: Other chromosomal abnormalities such as Turner syndrome, Klinefelter syndrome, and Cri-du-chat syndrome can cause intellectual disability and physical features that resemble Down Syndrome.
Fetal alcohol syndrome: Fetal alcohol syndrome can cause intellectual disability, growth problems, and distinctive facial features, which may be similar to those seen in Down Syndrome.
Prader-Willi syndrome: Prader-Willi syndrome is a genetic disorder that can cause intellectual disability, obesity, and distinctive facial features.
Fragile X syndrome: Fragile X syndrome is a genetic disorder that can cause intellectual disability, developmental delay, and distinctive physical features.
Williams syndrome: Williams syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and cardiovascular problems.
Noonan syndrome: Noonan syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and heart defects.
Hypothyroidism: Hypothyroidism can cause intellectual disability, growth problems, and other symptoms that may be mistaken for Down Syndrome.
It is important to note that these conditions have distinctive features that can help distinguish them from Down Syndrome, and a comprehensive evaluation by a medical professional is necessary to accurately diagnose the condition.
Management of Down Syndrome involves a multidisciplinary approach to address the various medical, developmental, and educational needs of individuals with the condition.
Some common strategies for managing Down Syndrome include:
Medical management: Individuals with Down Syndrome may have a range of medical issues, such as heart defects, vision or hearing problems, and gastrointestinal issues. Medical management involves regular monitoring, screening, and treatment of any associated medical conditions.
Early intervention: Early intervention services, such as physical therapy, occupational therapy, and speech therapy, can help address developmental delays and improve overall function.
Education and special services: Children with Down Syndrome benefit from early educational interventions and may require special education services throughout their schooling. Education and special services can help address cognitive, communication, and social skills.
Support services: Families of individuals with Down Syndrome may require support services to help manage the challenges associated with the condition. Support services can include respite care, family counseling, and financial assistance programs.
Genetic counseling: Genetic counseling can provide families with information about the cause of Down Syndrome, the likelihood of having another child with the condition, and the options available for prenatal testing and screening.
It is important for individuals with Down Syndrome to have regular medical check-ups and ongoing support throughout their lives to optimize their health and well-being.
https://www.ncbi.nlm.nih.gov/books/NBK526016/
medtigo
Down Syndrome
Updated :
March 18, 2023
Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21 in the body’s cells. This additional genetic material alters the course of development and results in characteristic physical features, intellectual disabilities, and a range of health complications.
Down syndrome is one of the most common genetic disorders and occurs in approximately 1 in 800 live births worldwide. While there is no cure for Down syndrome, early intervention, and supportive care can help affected individuals thrive and reach their full potential.
Down syndrome is one of the most common genetic disorders worldwide, with an estimated incidence of approximately 1 in 800 live births. The incidence of Down syndrome increases with maternal age, with the risk of having a child with the condition rising significantly after the age of 35.
However, the majority of children with Down syndrome are born to mothers under the age of 35 due to the higher number of younger women giving birth. The prevalence of Down syndrome varies by region and ethnicity. In the United States, the prevalence of Down syndrome is higher in non-Hispanic white individuals compared to other racial and ethnic groups.
Prenatal screening and diagnostic tests, such as maternal serum screening, cell-free DNA testing, and chorionic villus sampling, can detect the presence of Down syndrome during pregnancy. The use of these tests has led to a decrease in the number of live births of infants with Down syndrome in some countries due to the increased availability of prenatal diagnosis and subsequent termination of affected pregnancies.
Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21 (trisomy 21) in most or all cells of the body. The extra genetic material disrupts the normal development of the body and brain, leading to the characteristic features and medical problems associated with the condition. The overexpression of genes located on chromosome 21 affects many aspects of development and function in different organs and tissues.
Some of the pathophysiological changes that occur in Down syndrome include:
Abnormal brain development: The extra genetic material in chromosome 21 affects brain development, leading to changes in the size and structure of the brain. This can result in intellectual disability, delayed developmental milestones, and learning difficulties.
Cardiovascular abnormalities: Individuals with Down syndrome have a higher risk of congenital heart defects, which can affect the structure and function of the heart.
Immune system dysfunction: The immune system in individuals with Down syndrome may not function properly, leading to an increased risk of infections and autoimmune disorders.
Endocrine dysfunction: The extra genetic material in chromosome 21 affects the production and function of hormones, leading to endocrine disorders such as thyroid dysfunction, diabetes, and growth hormone deficiency.
Skeletal abnormalities: Individuals with Down syndrome may have skeletal abnormalities, including short stature, abnormalities of the spine, and an increased risk of osteoporosis.
Gastrointestinal abnormalities: Individuals with Down syndrome have an increased risk of gastrointestinal abnormalities such as esophageal atresia, duodenal atresia, and Hirschsprung’s disease. The severity and extent of these pathophysiological changes can vary among individuals with Down syndrome, leading to a wide range of clinical manifestations and medical complications.
Down Syndrome is caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. In most cases, this extra chromosome is acquired spontaneously during the formation of the sperm or egg cell, leading to a zygote with three copies of chromosome 21 instead of the normal two.
This is known as non-disjunction. In some cases, Down Syndrome can be caused by a translocation, where a part of chromosome 21 breaks off and attaches to another chromosome. This can lead to extra genetic material from chromosome 21 being present in the resulting cells.
Rarely, Down Syndrome can be caused by mosaicism, where there is a mixture of cells with a normal number of chromosomes and cells with an extra copy of chromosome 21. This occurs when a non-disjunction event happens in one of the initial cell divisions following fertilization, leading to some cells with the normal number of chromosomes and some with an extra copy of chromosome 21.
The prognosis of Down Syndrome varies widely depending on the individual and the severity of their symptoms. People with Down Syndrome can have a range of medical, developmental, and cognitive issues, and their prognosis will depend on the severity and treatment of these issues. With proper medical care and early intervention, many individuals with Down Syndrome can lead healthy and fulfilling lives.
However, they may require ongoing medical management for conditions such as heart defects, hearing and vision problems, and thyroid dysfunction. Developmental delays and intellectual disability are also common in people with Down Syndrome, and early intervention therapies such as physical, occupational, and speech therapy can help improve developmental outcomes.
Educational interventions and support can also help individuals with Down Syndrome reach their full potential. Overall, while Down Syndrome can present significant challenges, with appropriate medical care, supportive interventions, and a positive social environment, many individuals with Down Syndrome can lead happy and fulfilling lives.
Clinical presentation
The clinical presentation of Down syndrome can vary widely, but individuals with the condition typically have some combination of the following physical and cognitive features:
Facial features: People with Down syndrome often have distinctive facial features, including a flat facial profile, small ears, upward-slanting eyes, a small nose, and a protruding tongue.
Intellectual disability: Individuals with Down syndrome typically have some degree of intellectual disability, with an average IQ of around 50. However, the level of intellectual functioning can vary widely from person to person.
Developmental delays: Children with Down syndrome often experience delays in reaching developmental milestones such as sitting, crawling, and walking.
Hypotonia: People with Down syndrome often have low muscle tone, which can affect their ability to sit up, stand, and walk.
Congenital heart defects: A significant percentage of individuals with Down syndrome are born with congenital heart defects, which can range from mild to severe.
Gastrointestinal problems: Individuals with Down syndrome are at an increased risk of developing gastrointestinal issues such as gastroesophageal reflux disease (GERD), constipation, and celiac disease.
Vision and hearing problems: People with Down syndrome may experience vision and hearing problems, including nearsightedness, farsightedness, and cataracts.
Respiratory infections: Individuals with Down syndrome are at an increased risk of developing respiratory infections such as pneumonia, bronchitis, and sinusitis.
It is important to note that not all individuals with Down syndrome will have all of these features, and the severity of the condition can vary widely from person to person.
Physical examination
The physical examination of an individual with Down Syndrome may reveal various characteristic features, such as:
Facial features: A flattened facial profile, small head, upward slanting eyes with epicanthal folds, small ears, and a protruding tongue.
Hands and feet: Broad, short fingers with a single crease in the palm and a wide space between the first and second toes.
Musculoskeletal: Hypotonia (low muscle tone), joint hypermobility, and a wide space between the first and second toes.
Growth and development: Delayed growth, delayed motor skills, and intellectual disability.
Cardiac abnormalities: A significant proportion of individuals with Down Syndrome have congenital heart defects.
Hearing and vision problems: A high incidence of hearing and vision problems, including cataracts, glaucoma, and refractive errors.
Gastrointestinal problems: Gastrointestinal anomalies such as esophageal atresia and Hirschsprung disease are seen in a small proportion of individuals with Down Syndrome.
Endocrine disorders: Hypothyroidism is more commonly seen in individuals with Down Syndrome than in the general population.
It is important to note that not all individuals with Down Syndrome will exhibit all of these physical features, and the severity of the features can vary from person to person.
Differential diagnosis
The differential diagnosis of Down Syndrome includes:
Other chromosomal abnormalities: Other chromosomal abnormalities such as Turner syndrome, Klinefelter syndrome, and Cri-du-chat syndrome can cause intellectual disability and physical features that resemble Down Syndrome.
Fetal alcohol syndrome: Fetal alcohol syndrome can cause intellectual disability, growth problems, and distinctive facial features, which may be similar to those seen in Down Syndrome.
Prader-Willi syndrome: Prader-Willi syndrome is a genetic disorder that can cause intellectual disability, obesity, and distinctive facial features.
Fragile X syndrome: Fragile X syndrome is a genetic disorder that can cause intellectual disability, developmental delay, and distinctive physical features.
Williams syndrome: Williams syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and cardiovascular problems.
Noonan syndrome: Noonan syndrome is a genetic disorder that can cause developmental delay, distinctive facial features, and heart defects.
Hypothyroidism: Hypothyroidism can cause intellectual disability, growth problems, and other symptoms that may be mistaken for Down Syndrome.
It is important to note that these conditions have distinctive features that can help distinguish them from Down Syndrome, and a comprehensive evaluation by a medical professional is necessary to accurately diagnose the condition.
Management of Down Syndrome involves a multidisciplinary approach to address the various medical, developmental, and educational needs of individuals with the condition.
Some common strategies for managing Down Syndrome include:
Medical management: Individuals with Down Syndrome may have a range of medical issues, such as heart defects, vision or hearing problems, and gastrointestinal issues. Medical management involves regular monitoring, screening, and treatment of any associated medical conditions.
Early intervention: Early intervention services, such as physical therapy, occupational therapy, and speech therapy, can help address developmental delays and improve overall function.
Education and special services: Children with Down Syndrome benefit from early educational interventions and may require special education services throughout their schooling. Education and special services can help address cognitive, communication, and social skills.
Support services: Families of individuals with Down Syndrome may require support services to help manage the challenges associated with the condition. Support services can include respite care, family counseling, and financial assistance programs.
Genetic counseling: Genetic counseling can provide families with information about the cause of Down Syndrome, the likelihood of having another child with the condition, and the options available for prenatal testing and screening.
It is important for individuals with Down Syndrome to have regular medical check-ups and ongoing support throughout their lives to optimize their health and well-being.
https://www.ncbi.nlm.nih.gov/books/NBK526016/
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