acromegaly,gigantism and dwarfism
•Download as PPTX, PDF•
31 likes•9,287 views
This document discusses several types of dwarfism, including pituitary dwarfism, achondroplasia, and dystrophic dysplasia. Achondroplasia is the most common type of dwarfism, accounting for half of all cases, and is characterized by short limbs and a slightly enlarged head. Dystrophic dysplasia was once thought to be a form of achondroplasia, and individuals with this type can experience respiratory and orthopedic problems requiring surgery. Dwarfism is typically diagnosed in childhood based on visible symptoms, and genetic testing and diagnostic imaging can aid in determining the specific type.
Report
Share
Report
Share
Recommended
Acromegaly & gigantism
Acromegaly and gigantism are chronic metabolic disorders caused by excessive growth hormone levels. Acromegaly occurs in adulthood after bone growth plates have closed, causing tissue enlargement. Gigantism occurs in childhood before plate closure, resulting in abnormally large growth. Both are usually due to noncancerous pituitary tumors that overproduce growth hormone, leading to increased insulin-like growth factor levels and symptoms like enlarged hands, feet and head. Diagnosis involves blood tests and imaging to identify the source of excess growth hormone. Treatment focuses on surgery, radiation or medications to reduce hormone levels and stop further growth.
Gigantism
When too much growth hormone is secreted that augments the growth of muscle, bones, and connective tissue in childhood or adolescence before the end of puberty, the condition is called Gigantism.
Gigantism
Gigantism is a rare condition caused by excessive growth hormone production, usually from a noncancerous pituitary tumor, resulting in abnormal growth and size in children. Symptoms include increased height and size of body parts like hands and feet. Diagnosis involves blood tests to measure growth hormone levels and MRI scans to detect pituitary tumors. Treatment aims to stop growth hormone overproduction and may include surgery to remove tumors, medication to shrink tumors or block hormone effects, and gamma knife radiosurgery for tumors not accessible by traditional surgery.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Cretinism & hypothyroidism in children
Cretinism and hypothyroidism in children are congenital or acquired thyroid disorders caused by thyroid hormone deficiency. Cretinism results from congenital absence or deficiency of thyroid secretion and causes physical deformities and intellectual disability. Hypothyroidism is acquired due to primary thyroid issues or problems with the hypothalamic-pituitary-thyroid axis. Both disorders are diagnosed through clinical features, laboratory tests showing low thyroid hormones and high TSH, and imaging exams. Treatment involves lifelong thyroid hormone replacement therapy via thyroid supplements to replace missing hormones and allow normal growth and development.
Hypoparathyroidism
This document discusses hypoparathyroidism, which occurs when the parathyroid glands do not produce enough parathyroid hormone, leading to low calcium and high phosphorus levels in the blood. It defines different types, describes symptoms like muscle spasms and numbness. Diagnosis involves lab tests to check calcium, phosphorus and PTH levels. Treatment focuses on calcium supplementation through oral or IV routes as well as medications to bind phosphorus.
Acromegaly.ppt
Acromegaly is a chronic disease caused by excessive growth hormone production, usually from a pituitary tumor, leading to enlarged hands, feet, and lower face. Gigantism is similar but occurs in childhood, resulting in excessive growth and height over 7 feet. Panhypopituitarism is decreased secretion of pituitary hormones, causing dwarfism in children and Simmond's disease in adults, characterized by multiple hormone deficiencies.
Recommended
Acromegaly & gigantism
Acromegaly and gigantism are chronic metabolic disorders caused by excessive growth hormone levels. Acromegaly occurs in adulthood after bone growth plates have closed, causing tissue enlargement. Gigantism occurs in childhood before plate closure, resulting in abnormally large growth. Both are usually due to noncancerous pituitary tumors that overproduce growth hormone, leading to increased insulin-like growth factor levels and symptoms like enlarged hands, feet and head. Diagnosis involves blood tests and imaging to identify the source of excess growth hormone. Treatment focuses on surgery, radiation or medications to reduce hormone levels and stop further growth.
Gigantism
When too much growth hormone is secreted that augments the growth of muscle, bones, and connective tissue in childhood or adolescence before the end of puberty, the condition is called Gigantism.
Gigantism
Gigantism is a rare condition caused by excessive growth hormone production, usually from a noncancerous pituitary tumor, resulting in abnormal growth and size in children. Symptoms include increased height and size of body parts like hands and feet. Diagnosis involves blood tests to measure growth hormone levels and MRI scans to detect pituitary tumors. Treatment aims to stop growth hormone overproduction and may include surgery to remove tumors, medication to shrink tumors or block hormone effects, and gamma knife radiosurgery for tumors not accessible by traditional surgery.
Dwarfism
Dwarfism is caused by a deficiency in growth hormone or abnormalities in bones and cartilage. It results in short stature, with adult height usually under 4'10". The most common form is achondroplasia, which causes short limbs and an average size trunk. Other types include pituitary dwarfism and skeletal dysplasias. Dwarfism can be diagnosed through ultrasounds and genetic testing, though there is no cure - treatment focuses on managing health issues.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Cretinism & hypothyroidism in children
Cretinism and hypothyroidism in children are congenital or acquired thyroid disorders caused by thyroid hormone deficiency. Cretinism results from congenital absence or deficiency of thyroid secretion and causes physical deformities and intellectual disability. Hypothyroidism is acquired due to primary thyroid issues or problems with the hypothalamic-pituitary-thyroid axis. Both disorders are diagnosed through clinical features, laboratory tests showing low thyroid hormones and high TSH, and imaging exams. Treatment involves lifelong thyroid hormone replacement therapy via thyroid supplements to replace missing hormones and allow normal growth and development.
Hypoparathyroidism
This document discusses hypoparathyroidism, which occurs when the parathyroid glands do not produce enough parathyroid hormone, leading to low calcium and high phosphorus levels in the blood. It defines different types, describes symptoms like muscle spasms and numbness. Diagnosis involves lab tests to check calcium, phosphorus and PTH levels. Treatment focuses on calcium supplementation through oral or IV routes as well as medications to bind phosphorus.
Acromegaly.ppt
Acromegaly is a chronic disease caused by excessive growth hormone production, usually from a pituitary tumor, leading to enlarged hands, feet, and lower face. Gigantism is similar but occurs in childhood, resulting in excessive growth and height over 7 feet. Panhypopituitarism is decreased secretion of pituitary hormones, causing dwarfism in children and Simmond's disease in adults, characterized by multiple hormone deficiencies.
Addisons disease
Addison's disease is a rare disorder of the adrenal glands that affects the production of cortisol and aldosterone hormones. It is characterized by progressive anemia, low blood pressure, great weakness, and bronze skin discoloration. Common causes include an autoimmune response, infection of the adrenal glands, or inadequate hormone secretion. Left untreated, it can lead to death. Symptoms include fatigue, weakness, pain, nausea, and hyperpigmentation. Diagnosis involves testing cortisol and aldosterone levels along with monitoring electrolytes. Treatment consists of medications to replace hormones and educate patients on managing stress and monitoring for crises. Nursing focuses on monitoring blood pressure, glucose, electrolytes, and signs of
Acromegaly
Acromegaly is a hormonal disorder that develops when your pituitary gland produces too much growth hormone during adulthood
Final gigantism.
The document defines gigantism as abnormally large growth due to excess growth hormone during childhood, before growth plates close. It describes the pathophysiology of gigantism as being caused by overproduction of growth hormone from a pituitary adenoma, which leads to increased insulin-like growth factor 1 (IGF-1) levels. The clinical features of gigantism include excessive growth, delayed puberty, headaches, and enlarged hands and feet. Diagnostic tests include CT/MRI scans showing a pituitary adenoma, and high levels of growth hormone and IGF-1. Treatment involves surgery to remove the adenoma, radiation therapy, and drug therapy such as bromocriptine.
Hypothyroidism.ppt
Hypothyroidism is a decreased secretion of thyroid hormones. It occurs as cretinism in infants and myxedema in adults. Cretinism causes unproportional growth, mental retardation, enlarged tongue, and lack of sexual development. Myxedema causes edema, swelling of the face, fatigue, weight gain, and constipation. Both can be caused by iodine deficiency or genetic disorders. Goiter is an enlarged thyroid gland and can occur in hypothyroidism or hyperthyroidism. Hypothyroid goiter is caused by iodine deficiency or thyroiditis and leads to increased TSH and gland growth.
Parathyroid disorders
The document discusses the parathyroid glands, which regulate calcium and phosphate levels and produce parathyroid hormone (PTH). It describes hyperparathyroidism and hypoparathyroidism, conditions caused by excessive or deficient PTH respectively, and their symptoms, causes, assessments, and treatment including diet modifications and medications. Surgical removal of the parathyroid glands may be required to treat hyperparathyroidism.
Hypothyroidism
For More Medicine Free PPT - http://playnever.blogspot.com/
For Health benefits and medicine videos Subscribe youtube channel - https://www.youtube.com/playlist?list=PLKg-H-sMh9G01zEg4YpndngXODW2bq92w
Diabetes Insipidus
Diabetes insipidus is an uncommon disorder that causes an imbalance of fluids in the body. This imbalance makes you very thirsty even if you've had something to drink. It also leads you to produce large amounts of urine
Hypothyrodism
Hypothyroidism is the failure of the thyroid gland to produce enough hormones. It can cause hypertension, dyslipidemia, infertility and other issues if untreated. It is most common in females and prevalence increases with age. Thyroid dysfunction is more common in diabetics than the general population. Screening is recommended for diabetics and those with risk factors like autoimmune disease or family history. A TSH test is used to diagnose, and levothyroxine replacement is the standard treatment, with dosage based on weight. Subclinical hypothyroidism may also be treated in high risk groups.
Diabetes insipidus
This document discusses diabetes insipidus (DI), a disorder caused by a deficiency of antidiuretic hormone (ADH) characterized by excessive thirst and urination. There are two types: central DI caused by head trauma or pituitary issues reducing ADH production, and nephrogenic DI caused by kidney problems inhibiting ADH response. Symptoms include urinating large volumes of dilute urine and increased thirst. Diagnostic tests show high serum osmolality and low urine osmolality. Treatment aims to replace ADH through DDAVP nasal spray or IV, correct dehydration, and identify underlying causes.
Disorders of pituitary gland
The document discusses several disorders of the pituitary gland including gigantism, acromegaly, Cushing's disease, dwarfism, acromicria, Simmond's disease, syndrome of inappropriate antidiuretic hormone secretion, diabetes insipidus, and dystrophia adiposogenitalis. It describes the causes, signs and symptoms, and characteristics of each disorder. The disorders result from hyperactivity or hypoactivity of the pituitary gland and can be caused by tumors, injuries, or genetic factors that impact hormone production and regulation.
Hyperthyroidism
Hyperthyroidism is a condition where the thyroid gland produces excess thyroid hormones, causing a hypermetabolic state known as thyrotoxicosis. The most common cause is Graves' disease, an autoimmune disorder. Symptoms include weight loss, rapid heartbeat, sweating and irritability. Diagnosis involves blood tests to check thyroid hormone levels and treatment options include antithyroid medications, radioactive iodine therapy or surgery. Left untreated, hyperthyroidism can lead to complications affecting various body systems and organs.
High altitude illness
High altitude illness occurs when the body has difficulty adjusting to low oxygen levels at high elevations. Mild forms include acute mountain sickness with headaches and fatigue. More severe forms are high altitude cerebral edema, where the brain swells, and high altitude pulmonary edema, where the lungs fill with fluid. To prevent illness, people should ascend gradually to high elevations, stay hydrated, and rest adequately. If symptoms occur, descending to lower elevations provides the best treatment.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
HYPOTHYROID
This document provides an overview of hypothyroidism, including:
1. It discusses the anatomy and function of the thyroid gland and describes primary causes of hypothyroidism like chronic lymphocytic thyroiditis and iodine deficiency.
2. Laboratory tests for assessing hypothyroidism are outlined, with TSH identified as the most specific indicator. Conditions that can alter TSH and thyroid hormone levels are also noted.
3. The clinical presentation of hypothyroidism is reviewed along with treatment considerations like increased thyroid hormone needs during pregnancy. Biochemical markers and expected signs of clinical improvement with treatment are summarized.
Addison's Disease ppt
Addison's disease is a disorder where the adrenal glands do not produce enough cortisol and often aldosterone. It occurs in about 1 in 100,000 people and equally affects both sexes. Primary Addison's disease is often caused by an autoimmune reaction where the immune system attacks the adrenal glands. Secondary Addison's disease can be caused by tumors, medications, genetics, or traumatic brain injury. Symptoms include extreme fatigue, weight loss, dark skin, low blood pressure, and low blood sugar. Diagnosis involves blood tests to check electrolyte and hormone levels and imaging to examine the adrenal glands. Treatment consists of hydrocortisone and fludrocortisone pills to
Cushing Syndrome
Cushing syndrome is characterized by excess cortisol secretion caused by too much ACTH from the pituitary gland or excess cortisol from adrenal tumors. It presents with weight gain, thin extremities, moon face, skin changes, and metabolic complications. Diagnosis involves urine and blood tests to measure cortisol levels. Treatment depends on the underlying cause but may include surgery to remove tumors, radiation therapy, or medications to reduce cortisol levels. Nursing care focuses on preventing infections, injuries, skin breakdown and improving nutrition, fluid balance and body image.
Hypopituitarism
1) Hypopituitarism occurs when the pituitary gland loses its ability to produce hormones, resulting in deficiencies of growth hormone, ACTH, TSH, prolactin, FSH, LH, oxytocin, and antidiuretic hormone.
2) It can be congenital due to genetic mutations or perinatal injuries, or acquired from brain damage, tumors, infections, or other causes that damage the pituitary gland.
3) Symptoms depend on which hormones are deficient but may include growth failure, hypoglycemia, delayed puberty, electrolyte imbalances, and diabetes insipidus. Treatment involves hormone replacement therapy and monitoring hormone levels.
Pituitary disorders
Pituitary disorders can be caused by too much or too little of hormones produced by the pituitary gland. Hypopituitarism is a rare disorder where the pituitary fails to secrete hormones affecting many body functions. Pituitary disorders include dwarfism caused by growth hormone deficiency, gigantism caused by excess growth hormone in children, and acromegaly caused by excess growth hormone in adults. Other disorders discussed include diabetes insipidus, a disorder of antidiuretic hormone deficiency or resistance leading to excessive thirst and urination, and SIADH, a disorder of inappropriate antidiuretic hormone secretion causing hyponatremia. Management involves hormone replacement, surgery, radiation, or drugs depending on the specific disorder.
Klinefelter Syndrome
Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
Hyperparathyroidism
Hyperparathyroidism is medical condition where overactivity of one or more of the body's four parathyroid glands leads to excess of parathyroid hormone in the bloodstream.
18. gatbonton dwarfism
Achondroplasia is the most common type of dwarfism, caused by a mutation in the FGFR3 gene. It is characterized by an average height of 4 feet, with short arms and legs and a large head. It is inherited in an autosomal dominant pattern and causes disproportionate skeletal growth with bowed legs and short stature.
CMMB 403
FGFR3 is a gene that encodes a protein involved in bone growth. A mutation in FGFR3 causes the genetic disorder achondroplasia, which results in dwarfism. The mutation causes premature activation of the STAT signaling pathway, leading to decreased bone growth. One paper described the initial discovery of FGFR3 through identifying similarities to other FGFR genes and cloning the gene. A second paper discussed how the FGFR3 mutation specifically causes achondroplasia by prematurely activating the STAT pathway and decreasing chondrocyte proliferation.
More Related Content
What's hot
Addisons disease
Addison's disease is a rare disorder of the adrenal glands that affects the production of cortisol and aldosterone hormones. It is characterized by progressive anemia, low blood pressure, great weakness, and bronze skin discoloration. Common causes include an autoimmune response, infection of the adrenal glands, or inadequate hormone secretion. Left untreated, it can lead to death. Symptoms include fatigue, weakness, pain, nausea, and hyperpigmentation. Diagnosis involves testing cortisol and aldosterone levels along with monitoring electrolytes. Treatment consists of medications to replace hormones and educate patients on managing stress and monitoring for crises. Nursing focuses on monitoring blood pressure, glucose, electrolytes, and signs of
Acromegaly
Acromegaly is a hormonal disorder that develops when your pituitary gland produces too much growth hormone during adulthood
Final gigantism.
The document defines gigantism as abnormally large growth due to excess growth hormone during childhood, before growth plates close. It describes the pathophysiology of gigantism as being caused by overproduction of growth hormone from a pituitary adenoma, which leads to increased insulin-like growth factor 1 (IGF-1) levels. The clinical features of gigantism include excessive growth, delayed puberty, headaches, and enlarged hands and feet. Diagnostic tests include CT/MRI scans showing a pituitary adenoma, and high levels of growth hormone and IGF-1. Treatment involves surgery to remove the adenoma, radiation therapy, and drug therapy such as bromocriptine.
Hypothyroidism.ppt
Hypothyroidism is a decreased secretion of thyroid hormones. It occurs as cretinism in infants and myxedema in adults. Cretinism causes unproportional growth, mental retardation, enlarged tongue, and lack of sexual development. Myxedema causes edema, swelling of the face, fatigue, weight gain, and constipation. Both can be caused by iodine deficiency or genetic disorders. Goiter is an enlarged thyroid gland and can occur in hypothyroidism or hyperthyroidism. Hypothyroid goiter is caused by iodine deficiency or thyroiditis and leads to increased TSH and gland growth.
Parathyroid disorders
The document discusses the parathyroid glands, which regulate calcium and phosphate levels and produce parathyroid hormone (PTH). It describes hyperparathyroidism and hypoparathyroidism, conditions caused by excessive or deficient PTH respectively, and their symptoms, causes, assessments, and treatment including diet modifications and medications. Surgical removal of the parathyroid glands may be required to treat hyperparathyroidism.
Hypothyroidism
For More Medicine Free PPT - http://playnever.blogspot.com/
For Health benefits and medicine videos Subscribe youtube channel - https://www.youtube.com/playlist?list=PLKg-H-sMh9G01zEg4YpndngXODW2bq92w
Diabetes Insipidus
Diabetes insipidus is an uncommon disorder that causes an imbalance of fluids in the body. This imbalance makes you very thirsty even if you've had something to drink. It also leads you to produce large amounts of urine
Hypothyrodism
Hypothyroidism is the failure of the thyroid gland to produce enough hormones. It can cause hypertension, dyslipidemia, infertility and other issues if untreated. It is most common in females and prevalence increases with age. Thyroid dysfunction is more common in diabetics than the general population. Screening is recommended for diabetics and those with risk factors like autoimmune disease or family history. A TSH test is used to diagnose, and levothyroxine replacement is the standard treatment, with dosage based on weight. Subclinical hypothyroidism may also be treated in high risk groups.
Diabetes insipidus
This document discusses diabetes insipidus (DI), a disorder caused by a deficiency of antidiuretic hormone (ADH) characterized by excessive thirst and urination. There are two types: central DI caused by head trauma or pituitary issues reducing ADH production, and nephrogenic DI caused by kidney problems inhibiting ADH response. Symptoms include urinating large volumes of dilute urine and increased thirst. Diagnostic tests show high serum osmolality and low urine osmolality. Treatment aims to replace ADH through DDAVP nasal spray or IV, correct dehydration, and identify underlying causes.
Disorders of pituitary gland
The document discusses several disorders of the pituitary gland including gigantism, acromegaly, Cushing's disease, dwarfism, acromicria, Simmond's disease, syndrome of inappropriate antidiuretic hormone secretion, diabetes insipidus, and dystrophia adiposogenitalis. It describes the causes, signs and symptoms, and characteristics of each disorder. The disorders result from hyperactivity or hypoactivity of the pituitary gland and can be caused by tumors, injuries, or genetic factors that impact hormone production and regulation.
Hyperthyroidism
Hyperthyroidism is a condition where the thyroid gland produces excess thyroid hormones, causing a hypermetabolic state known as thyrotoxicosis. The most common cause is Graves' disease, an autoimmune disorder. Symptoms include weight loss, rapid heartbeat, sweating and irritability. Diagnosis involves blood tests to check thyroid hormone levels and treatment options include antithyroid medications, radioactive iodine therapy or surgery. Left untreated, hyperthyroidism can lead to complications affecting various body systems and organs.
High altitude illness
High altitude illness occurs when the body has difficulty adjusting to low oxygen levels at high elevations. Mild forms include acute mountain sickness with headaches and fatigue. More severe forms are high altitude cerebral edema, where the brain swells, and high altitude pulmonary edema, where the lungs fill with fluid. To prevent illness, people should ascend gradually to high elevations, stay hydrated, and rest adequately. If symptoms occur, descending to lower elevations provides the best treatment.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
HYPOTHYROID
This document provides an overview of hypothyroidism, including:
1. It discusses the anatomy and function of the thyroid gland and describes primary causes of hypothyroidism like chronic lymphocytic thyroiditis and iodine deficiency.
2. Laboratory tests for assessing hypothyroidism are outlined, with TSH identified as the most specific indicator. Conditions that can alter TSH and thyroid hormone levels are also noted.
3. The clinical presentation of hypothyroidism is reviewed along with treatment considerations like increased thyroid hormone needs during pregnancy. Biochemical markers and expected signs of clinical improvement with treatment are summarized.
Addison's Disease ppt
Addison's disease is a disorder where the adrenal glands do not produce enough cortisol and often aldosterone. It occurs in about 1 in 100,000 people and equally affects both sexes. Primary Addison's disease is often caused by an autoimmune reaction where the immune system attacks the adrenal glands. Secondary Addison's disease can be caused by tumors, medications, genetics, or traumatic brain injury. Symptoms include extreme fatigue, weight loss, dark skin, low blood pressure, and low blood sugar. Diagnosis involves blood tests to check electrolyte and hormone levels and imaging to examine the adrenal glands. Treatment consists of hydrocortisone and fludrocortisone pills to
Cushing Syndrome
Cushing syndrome is characterized by excess cortisol secretion caused by too much ACTH from the pituitary gland or excess cortisol from adrenal tumors. It presents with weight gain, thin extremities, moon face, skin changes, and metabolic complications. Diagnosis involves urine and blood tests to measure cortisol levels. Treatment depends on the underlying cause but may include surgery to remove tumors, radiation therapy, or medications to reduce cortisol levels. Nursing care focuses on preventing infections, injuries, skin breakdown and improving nutrition, fluid balance and body image.
Hypopituitarism
1) Hypopituitarism occurs when the pituitary gland loses its ability to produce hormones, resulting in deficiencies of growth hormone, ACTH, TSH, prolactin, FSH, LH, oxytocin, and antidiuretic hormone.
2) It can be congenital due to genetic mutations or perinatal injuries, or acquired from brain damage, tumors, infections, or other causes that damage the pituitary gland.
3) Symptoms depend on which hormones are deficient but may include growth failure, hypoglycemia, delayed puberty, electrolyte imbalances, and diabetes insipidus. Treatment involves hormone replacement therapy and monitoring hormone levels.
Pituitary disorders
Pituitary disorders can be caused by too much or too little of hormones produced by the pituitary gland. Hypopituitarism is a rare disorder where the pituitary fails to secrete hormones affecting many body functions. Pituitary disorders include dwarfism caused by growth hormone deficiency, gigantism caused by excess growth hormone in children, and acromegaly caused by excess growth hormone in adults. Other disorders discussed include diabetes insipidus, a disorder of antidiuretic hormone deficiency or resistance leading to excessive thirst and urination, and SIADH, a disorder of inappropriate antidiuretic hormone secretion causing hyponatremia. Management involves hormone replacement, surgery, radiation, or drugs depending on the specific disorder.
Klinefelter Syndrome
Klinefelter syndrome is a genetic disorder that affects males, occurring when a boy is born with one or more extra X chromosomes. It affects about 1 in 1000 males. The condition was first identified in 1942 and involves small testes, infertility and other issues. Diagnosis involves hormone testing and chromosome analysis showing 47,XXY karyotype in most cases. Symptoms may include language delays, tall stature, and breast development at puberty. Treatment focuses on testosterone therapy, fertility options, and addressing physical and psychological issues.
Hyperparathyroidism
Hyperparathyroidism is medical condition where overactivity of one or more of the body's four parathyroid glands leads to excess of parathyroid hormone in the bloodstream.
What's hot (20)
Similar to acromegaly,gigantism and dwarfism
18. gatbonton dwarfism
Achondroplasia is the most common type of dwarfism, caused by a mutation in the FGFR3 gene. It is characterized by an average height of 4 feet, with short arms and legs and a large head. It is inherited in an autosomal dominant pattern and causes disproportionate skeletal growth with bowed legs and short stature.
CMMB 403
FGFR3 is a gene that encodes a protein involved in bone growth. A mutation in FGFR3 causes the genetic disorder achondroplasia, which results in dwarfism. The mutation causes premature activation of the STAT signaling pathway, leading to decreased bone growth. One paper described the initial discovery of FGFR3 through identifying similarities to other FGFR genes and cloning the gene. A second paper discussed how the FGFR3 mutation specifically causes achondroplasia by prematurely activating the STAT pathway and decreasing chondrocyte proliferation.
Dwarfism 120226201518-phpapp02
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to an underlying medical condition. It is caused by genetic mutations or disorders that affect bone growth and development. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height cannot be increased, treatment focuses on managing related health issues and in some cases, surgery can correct bone and joint problems.
Dwarfism 1
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
Skeletal dysplasia final
Skeletal dysplasias are a heterogeneous group of genetic disorders that result in abnormalities of bone or cartilage growth and structure. They occur due to mutations that affect endochondral ossification. Achondroplasia is the most common type of skeletal dysplasia and dwarfism, caused by mutations in the FGFR3 gene. It is characterized by disproportionate short stature with short arms and legs, frontal bossing of the head, midface hypoplasia, spinal stenosis and risks of neurological complications. Diagnosis is based on clinical and radiological findings including characteristic changes to the long bones, skull and vertebrae.
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.
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.
Dwarfism
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to an underlying medical condition. It is caused by genetic mutations or disorders that affect bone growth and development. The most common type of dwarfism is achondroplasia which causes disproportionate short stature with normal trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height cannot be increased, treatment focuses on managing related health issues through surgery or hormone therapy.
Achondroplasia
Achondroplasia is a genetic disorder that causes dwarfism and disproportionate short stature. It results from a mutation in the FGFR3 gene which regulates bone growth. Individuals with achondroplasia have short stature and limbs, with relatively normal trunk and head size, giving them an enlarged head and prominent forehead appearance. Health issues can include recurrent ear infections, spinal stenosis, and difficulty bending joints. While there is no cure, treatment focuses on monitoring growth, preventing obesity, and managing complications through surgery if needed.
Achondroplasia
Achondroplasia is a type of dwarfism caused by a mutation in the FGFR3 gene, which regulates bone growth. It results in short limbs, an enlarged head, and limited joint movement. While it cannot be cured, treatment focuses on monitoring health, preventing complications, and alleviating symptoms like back pain and sleep apnea. People with achondroplasia can live normal lives through adaptations and with support from family and community.
Genetic Diseases
The document discusses several genetic diseases including Achondroplasia, Autism, Cri du chat syndrome, Cystic fibrosis, Down syndrome, Duane syndrome, Duchenne muscular dystrophy, Factor V Leiden thrombophilia, Familial hypercholesterolemia, Fragile X syndrome, Gaucher disease, Hemophilia, Holoprosencephaly, Klinefelter syndrome, Myotonic dystrophy, Neurofibromatosis, Noonan syndrome, Osteogenesis imperfecta, Parkinson's disease, Phenylketonuria, Retinitis pigmentosa, Sickle cell disease, and Tay-Sachs disease. For each disease, the document provides a brief description of
Dwarfism Biology
Dwarfism is a genetic disorder characterized by abnormally short stature, with an adult height of 148 cm (4 feet 10 inches) or less. It has many potential causes, most commonly achondroplasia which accounts for 70% of cases. Dwarfism affects less than 200,000 people worldwide and has a prevalence rate of 0.5 to 1.5 in 10,000 births for achondroplasia. Common signs include short stature, large head, bowed legs, and joint issues. Complications can include obstetric difficulties, neurological problems, and osteoarthropathy of the knee joints. Support groups for dwarfism include the Restricted Growth Association and Little People of America.
191022 achondroplasia
Achondroplasia is the most common congenital dwarfism characterized by shortening of the long bones, especially the proximal ones, leading to an abnormal gait. The hands have a distinctive trident appearance caused by widening between the third and fourth digits. It results from a failure of normal cartilage growth at the growth plates of bones.
Apert Syndrome
Apert syndrome is a genetic condition characterized by premature fusion of skull bones resulting in an abnormal head shape. It is caused by mutations in the FGFR2 gene and is inherited in an autosomal recessive pattern. Symptoms include skull abnormalities, fusion of the fingers and toes, and sometimes intellectual disabilities. While there is no cure, treatments focus on corrective surgeries to separate skull bones and digits.
Skeletal dysplasias and dwarfism
Skeletal dysplasias and dwarfism can be caused by over 200 genetic disorders that result in abnormal bone growth. There are two main types: dysplasias with generalized skeletal abnormalities and dysostoses with abnormalities of single or multiple bones. Achondroplasia, the most common type of dwarfism, is caused by a mutation that slows endochondral bone growth. It is characterized by frontal bossing, midface hypoplasia, rhizomelic shortening of the limbs, trident hands, genu varum, and normal intelligence. Assessment involves examining for disproportion, general examination including radiographs to evaluate for complications like foramen magnum stenosis. Treatment focuses on managing complications through surgery or other
Skeletal dysplasia musculoskeletal radiology
Skeletal dysplasia musculoskeletal radiology is very concise and it cover the all-important topic of skeletal dysplasia with their characteristic feature and radiological findings with a proper radiographic image. Starting from classification and approach. It includes nosology classification. Thanks.
Cerebral palsy الشلل الدماغي
Cerebral palsy is a static encephalopathy characterized by abnormal muscle tone and posture that is non-progressive. It is caused by brain injury during development and is often associated with epilepsy, speech problems, vision issues and cognitive dysfunction. The document discusses the various classifications, types, signs and symptoms of cerebral palsy including spastic, athetoid, ataxic and mixed variants. Prenatal, perinatal and postnatal insults can all potentially cause cerebral palsy. Early warning signs include delays in motor skills, abnormal tone, posture and presence of primitive reflexes.
6-Birth-Defects.ppt
Birth defects are abnormalities present at birth that can cause disabilities or death. They range from minor to serious and affect about 150,000 babies born in the US each year. Common birth defects include spina bifida, caused by inadequate folic acid during early pregnancy and clubfoot. Spina bifida occurs when the bones of the spinal column do not fully close, leaving an opening. Early prenatal surgery may help repair some birth defects. Fetal alcohol syndrome, caused by drinking during pregnancy, can result in physical deformities and neurological issues. Cerebral palsy is caused by brain injury before or during birth and results in difficulties with movement and posture. Down syndrome, caused by an extra 21st chromosome, leads to intellectual
Aging disoder and orthopedics disorders
Progeria is an extremely rare genetic condition where children age rapidly, experiencing many signs of aging at a very early age. It affects about 1 in 4-8 million births. The main symptoms include baldness, wrinkled skin, joint stiffness, loss of body fat and muscle, and cardiovascular problems. Average life expectancy is 13 years. While there is no cure, treatments can help manage symptoms and slow progression, such as low-dose aspirin, physical therapy, and lifestyle modifications. Progeria is caused by a genetic mutation and provides insight into normal human aging processes.
Skeletal dysplasia
An Overview of Skeletal Dysplasia. Abnormality of skeleto muscular system resulting into deformities, growth arrest and functionalLimitations
Similar to acromegaly,gigantism and dwarfism (20)
More from mandira dahal
Mylogram
Myelography is an imaging examination that involves inserting a needle into the spinal canal and injecting contrast dye to visualize the spinal cord, nerve roots, and surrounding structures using fluoroscopy and x-rays. It is used to evaluate herniated discs, tumors, infections, inflammation, spinal lesions, and stenosis. Patients are prepped and positioned for the procedure, a needle is inserted to draw fluid and inject contrast dye, and x-rays are taken. Post-procedure care involves rest, monitoring for side effects, and encouraging fluids to eliminate the dye.
Family planning
Family planning involves conscious efforts by couples to regulate births. It aims to avoid unwanted births and determine family size. Methods include hormonal, mechanical, surgical, and emergency contraception. Hormonal methods prevent pregnancy by stopping ovulation or thickening cervical mucus. DMPA injections contain progestin and prevent pregnancy for 3 months by suppressing ovulation. Jadelle implants contain levonorgestrel and are 99.7% effective over 5 years by blocking ovulation and thickening cervical mucus. Both have minimal side effects and are reversible options for long-term birth spacing.
Eye and ear problems
This document summarizes common ear, eye, and skin disorders. It describes otitis media (inflammation of the middle ear), its types including acute suppurative and chronic suppurative otitis media. It also describes conjunctivitis, its causes and types including bacterial, viral, and trachoma. Finally, it discusses various skin conditions like infections (bacterial, viral, fungal), dermatitis, and malignant tumors (squamous cell carcinoma, basal cell carcinoma, melanoma).
Skin anatomy
The skin is the largest organ of the body, weighing approximately 4 kg for an adult and covering an area of about 2 square meters. It has several important functions, including providing protection, regulating temperature, and serving as a sensory organ.
The skin is composed of three main layers - the epidermis, dermis, and hypodermis. The epidermis is made up of stratified squamous epithelium with the basal, prickle, and granular cell layers. Below this is the dermis containing collagen, elastic fibers, and appendages. The deepest layer is the hypodermis, which stores fat.
The skin contains several cell types including keratinocytes, melanocytes, Langerh
Disorder of pituitary gland
Disorders of the pituitary gland can cause hyperpituitarism or hypopituitarism. Hyperpituitarism results from overproduction of hormones and can lead to gigantism, acromegaly, Cushing's syndrome, or inappropriate release of ADH. Hypopituitarism is caused by underproduction of hormones and can cause Sheehan's syndrome, dwarfism, or diabetes insipidus. Gigantism occurs in children and causes excessive growth, while acromegaly occurs after growth plates close and causes enlargement of extremities. Dwarfism is growth hormone deficiency in children leading to short stature. Diabetes insipidus is caused by ADH deficiency resulting in excessive ur
Hypo hyper thyroid graves
Thyroid disorders can cause either hyperthyroidism or hypothyroidism. Graves' disease is a common cause of hyperthyroidism characterized by diffuse thyroid enlargement, eye changes, and sometimes skin changes. It is an autoimmune disorder caused by antibodies that stimulate the thyroid. Hashimoto's thyroiditis is a common cause of hypothyroidism and is also an autoimmune disease where lymphocytes infiltrate the thyroid and destroy it over time.
Diabetes mellitus
This document summarizes diabetes mellitus (DM), including the main types (type 1, type 2), symptoms, diagnosis criteria, pathogenesis, and complications. DM is a group of metabolic disorders characterized by hyperglycemia due to defects in insulin secretion or action. The main types are type 1 DM, an autoimmune disease resulting in absolute insulin deficiency; and type 2 DM, caused by a combination of insulin resistance and inadequate insulin secretion. Diagnosis is based on elevated blood glucose levels. Long-term complications of DM include end-stage renal disease, blindness, and limb amputations if not properly managed.
Dead body care
The document discusses death and the physiological changes that occur after death, including rigor mortis, algor mortis, and livor mortis. It also outlines the proper procedures for caring for a dead body, which includes cleaning and preparing the body, closing orifices, applying identification tags, allowing family to view the body, and documenting details of the death and body release. The goal of dead body care is to prepare the body for the morgue and prevent discoloration or deformity while protecting the body from post-mortem discharge.
puppet show
The document discusses different types of puppets, including hand puppets, string puppets, shadow puppets, and stick or rod puppets. It provides details on how each type is constructed and manipulated. Some key advantages of using puppets mentioned are that they can grab audiences' attention, create awareness, and promote creative thinking and oral communication skills in a cheap and low-manpower way. However, it also notes puppets can be difficult for all to understand, time-consuming, and require techniques and technicians to use effectively for education over just entertainment.
Multiple sclerosis
Multiple sclerosis is a demyelinating disease of the central nervous system characterized by patches of demyelination in the brain and spinal cord. It is caused by an immune-mediated process that damages myelin and oligodendrocytes. Symptoms vary depending on the location of lesions but may include visual disturbances, weakness, numbness, fatigue, and cognitive changes. Diagnosis involves neurological examination, MRI imaging showing lesions, and visual evoked potential testing. While there is no cure, medications can help reduce symptoms and modify the progression of the disease.
physical restrain in ICU
This document discusses physical restraint in the ICU. It defines physical restraint as any manual method or device that restricts a patient's freedom of movement or access to their body that they cannot easily remove. Common types of restraints used in healthcare settings are then listed. The purposes of restraint include risk reduction and safety concerns. However, restraint also carries psychological, physical, and medical risks that are outlined. The document recommends alternative strategies to restraint such as diversional activities, environmental changes, and education. It provides guidance on patient and family education, monitoring, documentation, and proper tying techniques when restraints are absolutely necessary.
More from mandira dahal (11)
Recently uploaded
Part II - Body Grief: Losing parts of ourselves and our identity before, duri...
Learn about body grief and ways to cope with it. We will also explore methods to heal from this challenging experience.
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptx
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptxHolistified Wellness
We’re talking about Vedic Meditation, a form of meditation that has been around for at least 5,000 years. Back then, the people who lived in the Indus Valley, now known as India and Pakistan, practised meditation as a fundamental part of daily life. This knowledge that has given us yoga and Ayurveda, was known as Veda, hence the name Vedic. And though there are some written records, the practice has been passed down verbally from generation to generation.Top 10 Best Ayurvedic Kidney Stone Syrups in India
we have mentioned the best 10 ayurvedic Kidney Stone Syrups. You can check all these products and choose the best one for yourself.
ABDOMINAL TRAUMA in pediatrics part one.
Abdominal trauma in pediatrics refers to injuries or damage to the abdominal organs in children. It can occur due to various causes such as falls, motor vehicle accidents, sports-related injuries, and physical abuse. Children are more vulnerable to abdominal trauma due to their unique anatomical and physiological characteristics. Signs and symptoms include abdominal pain, tenderness, distension, vomiting, and signs of shock. Diagnosis involves physical examination, imaging studies, and laboratory tests. Management depends on the severity and may involve conservative treatment or surgical intervention. Prevention is crucial in reducing the incidence of abdominal trauma in children.
share - Lions, tigers, AI and health misinformation, oh my!.pptx
• Pitfalls and pivots needed to use AI effectively in public health
• Evidence-based strategies to address health misinformation effectively
• Building trust with communities online and offline
• Equipping health professionals to address questions, concerns and health misinformation
• Assessing risk and mitigating harm from adverse health narratives in communities, health workforce and health system
NVBDCP.pptx Nation vector borne disease control program
NVBDCP was launched in 2003-2004 . Vector-Borne Disease: Disease that results from an infection transmitted to humans and other animals by blood-feeding arthropods, such as mosquitoes, ticks, and fleas. Examples of vector-borne diseases include Dengue fever, West Nile Virus, Lyme disease, and malaria.
Integrating Ayurveda into Parkinson’s Management: A Holistic Approach
Explore the benefits of combining Ayurveda with conventional Parkinson's treatments. Learn how a holistic approach can manage symptoms, enhance well-being, and balance body energies. Discover the steps to safely integrate Ayurvedic practices into your Parkinson’s care plan, including expert guidance on diet, herbal remedies, and lifestyle modifications.
Efficacy of Avartana Sneha in Ayurveda
Avartana Sneha is a unique method of Preparation of Sneha Kalpana in Ayurveda, mainly it is indicated for the Vataja rogas.
Journal Article Review on Rasamanikya
Rasamanikya is a excellent preparation in the field of Rasashastra, it is used in various Kushtha Roga, Shwasa, Vicharchika, Bhagandara, Vatarakta, and Phiranga Roga. In this article Preparation& Comparative analytical profile for both Formulationon i.e Rasamanikya prepared by Kushmanda swarasa & Churnodhaka Shodita Haratala. The study aims to provide insights into the comparative efficacy and analytical aspects of these formulations for enhanced therapeutic outcomes.
Identification and nursing management of congenital malformations .pptx
Identification and nursing management of congenital malformations .pptxMGM SCHOOL/COLLEGE OF NURSING
Identification and nursing management of congenital malformations Osteoporosis - Definition , Evaluation and Management .pdf
Osteoporosis is an increasing cause of morbidity among the elderly.
In this document , a brief outline of osteoporosis is given , including the risk factors of osteoporosis fractures , the indications for testing bone mineral density and the management of osteoporosis
Top-Vitamin-Supplement-Brands-in-India List
Swisschem Dermacare provides the Top 10 Vitamin Supplement Brands in India. To know more about us give us call at our official number
The Electrocardiogram - Physiologic Principles
These lecture slides, by Dr Sidra Arshad, offer a quick overview of the physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar lead (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
6. Describe the flow of current around the heart during the cardiac cycle
7. Discuss the placement and polarity of the leads of electrocardiograph
8. Describe the normal electrocardiograms recorded from the limb leads and explain the physiological basis of the different records that are obtained
9. Define mean electrical vector (axis) of the heart and give the normal range
10. Define the mean QRS vector
11. Describe the axes of leads (hexagonal reference system)
12. Comprehend the vectorial analysis of the normal ECG
13. Determine the mean electrical axis of the ventricular QRS and appreciate the mean axis deviation
14. Explain the concepts of current of injury, J point, and their significance
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. Chapter 3, Cardiology Explained, https://www.ncbi.nlm.nih.gov/books/NBK2214/
7. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Recently uploaded (20)
Part II - Body Grief: Losing parts of ourselves and our identity before, duri...
Part II - Body Grief: Losing parts of ourselves and our identity before, duri...
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptx
8 Surprising Reasons To Meditate 40 Minutes A Day That Can Change Your Life.pptx
Top 10 Best Ayurvedic Kidney Stone Syrups in India
Top 10 Best Ayurvedic Kidney Stone Syrups in India
CHEMOTHERAPY_RDP_CHAPTER 6_Anti Malarial Drugs.pdf
CHEMOTHERAPY_RDP_CHAPTER 6_Anti Malarial Drugs.pdf
share - Lions, tigers, AI and health misinformation, oh my!.pptx
share - Lions, tigers, AI and health misinformation, oh my!.pptx
NVBDCP.pptx Nation vector borne disease control program
NVBDCP.pptx Nation vector borne disease control program
Integrating Ayurveda into Parkinson’s Management: A Holistic Approach
Integrating Ayurveda into Parkinson’s Management: A Holistic Approach
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Ear and its clinical correlations By Dr. Rabia Inam Gandapore.pptx
Identification and nursing management of congenital malformations .pptx
Identification and nursing management of congenital malformations .pptx
Muscles of Mastication by Dr. Rabia Inam Gandapore.pptx
Muscles of Mastication by Dr. Rabia Inam Gandapore.pptx
Osteoporosis - Definition , Evaluation and Management .pdf
Osteoporosis - Definition , Evaluation and Management .pdf
acromegaly,gigantism and dwarfism
- 20. DWARFISM Also known as growth hormone deficiency and hypo secretion of growth hormone A person of short stature Disproportionate body parts Pituitary dwarfism 1 in every 3800 births
- 22. Acondroplasia Of all the types of Dwarfism , acondroplasia is by for the most common type This type of dwarfism accounts half of all cases
- 23. Characteristics of Acondroplasia People with this type have an average size trunk, with short arms and legs with a slightly enlarged head and prominent forehead Most of the people with this type are born to average sized parents The average adult height is about 4 feet tall
- 24. Dystrophic dysplasia Before 1960 many Doctor believed that this type was another form of acondroplasia Life span is normal, however there tend to be respiratory problems at infancy and orthopedic problem which can require many surgeries.
- 25. Characteristic of dystrophic dysplasia Short limbs Cleft palate Club feet Ears with cauliflower appearance
- 26. Diagnosis Dwarfism is often diagnosed in childhood on the basis of visible symptoms A physical examination can usually suffice to diagnose certain types of dwarfism Genetic testing and diagnostic imaging
- 27. Prevention Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic testing Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.