Materiały źródłowe

• #1 Dwarfism – Wikipedia

  https://en.wikipedia.org/wiki/Dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. […] Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.

• #1 Achondroplasia: Symptoms, Treatment, Causes & Diagnosis

  https://my.clevelandclinic.org/health/diseases/22183-achondroplasia

  How can I reduce my risk of having a child with achondroplasia? […] Since achondroplasia is a rare genetic condition that’s often the result of a new gene mutation, there’s no way to prevent those random cases. If a parent has achondroplasia, the chance to pass it on could be significantly decreased through preimplantation genetic testing. If youre interested in learning more, please should speak with your OB/GYN provider. […] Staying regular with checkups during infancy and throughout childhood can prevent many symptoms of achondroplasia from occurring.

• #1 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Because of this positive safety profile, the door seems wide open for long-term use of Voxzogo without the potential for negative consequences. […] To keep the growth plates open as long as possible, pediatric endocrinologists prescribe aromatase inhibitors. These inhibitors are typically used to reduce breast cancer risk by preventing hormones from becoming estrogen. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #1 Dwarfism: All you need to know

  https://youngbonesclinic.com/dwarfism-all-you-need-to-know/

  Dr. Ratnav Ratan, a leading pediatric orthopedic surgeon in Delhi, explains dwarfism and its management. Suitable corrective surgeries for clubfoot, bowed legs, limb lengthening procedures, and other corrective procedures done during the early stages can improve the lives of such children as it is detected in utero, at birth, or during the growth phase. Hence, it is essential to have a comprehensive recovery plan as an experienced pediatric orthopedic suggests. […] Dr.Ratnav states that suitable orthopedic treatment done during the early stages can improve the lives of such children since it is detected in utero, at birth or during the growth phase. Hence, seeking treatment of an experienced pediatric orthopedic is utmost essential in such cases.

• #1

  https://111.wales.nhs.uk/encyclopaedia/r/article/restrictedgrowth

  Restricted growth, sometimes known as dwarfism, is a condition characterised by unusually short height. […] Treatment with growth hormone injections may benefit some people with restricted growth and can help a child with the condition grow more than they otherwise would. […] Some people with restricted growth (dwarfism) may be able to have growth hormone treatment or leg-lengthening surgery. […] The National Institute for Health and Care Excellence (NICE) recommends human growth hormone treatment (somatropin) as an option for children whose poor growth is linked to: growth hormone deficiency, Turner syndrome, Prader-Willi syndrome, chronic kidney disease, a genetic condition called SHOX deficiency. […] Somatropin treatment may stop once your child stops growing, but in some cases it may be given into adulthood because it can sometimes help prevent problems such as weak bones (osteoporosis).

• #1

  https://mysupportnetwork.ie/disabilities/dwarfism/

  Restricted growth is a symptom of many different medical conditions. […] Treatment will depend upon the cause of the short stature and is likely to involve a multidisciplinary approach (seeing many different types of health professionals). […] Human growth hormone can help stimulate growth in children with a growth hormone deficiency. […] In 2002, the UKs National Institute for Health and Clinical Excellence (NICE) recommended somatropin (human growth hormone treatment) for children with a proven diagnosis of growth hormone deficiency. […] This helps to prevent short stature during adulthood. […] Replacing levels of human growth hormone appears to lower the risk of cardiovascular disease and increase bone mineral density in adults with a growth hormone deficiency, lowering their risk of bone fractures.

• #1 Achondroplasia Medication: Growth hormone, C-Type Natriuretic Peptide

  https://emedicine.medscape.com/article/1258401-medication

  Growth hormone is used to increase the height of patients with achondroplasia (see Medical Care). However, no long-term studies exist to justify prolonged treatment for short stature. Vosoritide, a biologic analogue of C-type natriuretic peptide (CNP), is approved to prevent the inhibition of mineralization of chondrocytes caused by the mutation in the fibroblast growth factor receptor 3 (FGFR3) gene (FGFR3). […] Indicated to increase linear growth in pediatric patients aged 5 years and older who have achondroplasia with open epiphyses. […] Staged lengthening in the prevention of dwarfism in achondroplastic children: a preliminary report.

• #1 ‘Dwarf Pride’ Was Hard Won. Will a Growth Drug Undermine It? – The New York Times

  https://www.nytimes.com/2020/09/05/world/dwarfism-vosoritide.html

  AUCKLAND, New Zealand — It’s a question many parents of children with dwarfism have contemplated: If a medication could make them taller, would they give it to them? […] A study published this weekend in the journal The Lancet found that an experimental drug called vosoritide increased growth in children with the most common form of dwarfism to nearly the same rate as in children without the condition. […] The study has raised hope that the drug, if taken over the course of years, can make life easier for those with the condition, known as achondroplasia, including the distant prospect of alleviating major quality-of-life issues such as back pain and breathing difficulties. […] The study in The Lancet found that children who took the drug grew an additional 0.6 inches on average in one year, with minimal side effects. If taken over many years, vosoritide could produce a significant increase in adult height, though the study was limited to a year and does not address this possibility, or resolve whether the medication can ease the medical complications common to dwarfism. […] The drug — whose price has not yet been set, though it is likely to be costly — could provide an alternative to arduous limb-lengthening surgery

• #1 FDA approves first drug for genetic cause of dwarfism | STAT

  https://www.statnews.com/2021/11/19/fda-approves-first-drug-for-genetic-cause-of-dwarfism/

  The Food and Drug Administration approved the first treatment for the most common cause of dwarfism Friday, a drug that has proved to increase childrens height but has been polarizing among adults with short stature. […] BioMarin does not yet have data on whether Voxzogo can prevent the hearing loss, sleep apnea, and life-threatening skeletal problems that can result from achondroplasia, complications that take years to develop. […] Voxzogo is approved for children with achondroplasia between the ages of 5 and 18. BioMarin is conducting a study enrolling infants and younger children, with data expected next year. If the results are positive, the company expects to apply for a wider FDA label.

• #1 Gene therapy: A potential cure for growth-hormone resistant dwarfism

  https://www.drugtargetreview.com/news/103053/gene-therapy-a-potential-cure-for-growth-hormone-resistant-dwarfism/

  Researchers have shown that gene therapy using a single-dose injection of a virus carrying the good gene could possibly be used to cure growth-hormone resistant dwarfism. […] Gene therapy has given us a promising start in managing dwarfism. This is far more favourable compared to rhIGF1 injections, once or twice daily for many years, which causes side effects of pain and discomfort to patients and comes as a huge financial burden to those involved, concluded Professor Lee K O, research lead.

• #1

  https://111.wales.nhs.uk/encyclopaedia/r/article/restrictedgrowth

• #1

  https://111.wales.nhs.uk/encyclopaedia/r/article/restrictedgrowth

  If you have particularly short legs, a leg-lengthening process known as distraction may be an option. […] Distraction can sometimes result in a significant increase in height, but it’s a lengthy treatment and has a risk of complications, so isn’t always recommended. […] It’s therefore important that you understand exactly what it involves and talk to your surgeon or doctor about the risks if it’s suggested as a possible treatment for you or your child.

• #1

  https://mysupportnetwork.ie/disabilities/dwarfism/

  Controlling chronic (long-term) conditions such as lung disease, heart disease or arthritis from an early stage can lessen the effect of these on growth. […] Treatments should focus on preventing or treating any complications that may occur in the condition that causes disproportionate short stature (DSS). […] If a person has particularly short legs, a leg-lengthening process known as distraction is an option. […] However, this can be a long procedure and is not without the risk of complications.

• #1 Dwarfism – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/dwarfism/

  Its important that both patients and their family members understand the causes, underlying conditions, and treatment options for being shorter than average. […] The growth hormone used in treatment is very similar to the one naturally produced by our bodies and is both safe and effective. […] Continual check-ups with a specialist in childrens hormones (a pediatric endocrinologist), blood tests, and X-rays are needed to keep track of the childs development. […] The treatment is a long-term commitment, and sticking to the plan is crucial for achieving the best possible results. […] Patients should also know how to administer the medication properly, where to inject it, when to take it, and how to store it correctly to make sure it remains effective. […] There could be side effects, like allergic reactions, rashes, or swelling at the injection site.

• #1 Dwarfism – baby, symptoms, average, Definition, Description, Demographics, Causes and symptoms

  http://www.healthofchildren.com/D/Dwarfism.html

  There is no known way to prevent dwarfism because it results from genetic causes. Short stature as a result of parental neglect can be prevented. Education of the parents on the needs of the child is necessary, or the child may be removed from parental custody. […] Persons who have short stature should eat nutritionally sound, balanced meals. Their caloric requirements are slightly less than those of people who have normal height. […] Parents of children who are short statured should provide the same love and support as they would to any other child. In addition, they should offer counseling to help their children cope with their smaller stature. Adequate medical treatment should be provided to assure the best possible outcome.

• #2 Dwarfism | healthdirect

  https://www.healthdirect.gov.au/dwarfism

  Dwarfism is a condition where a person is unusually short 147cm or shorter. […] Can dwarfism be prevented? […] Because there are many causes of dwarfism, including new genetic mutations, it cant be prevented. […] Treatment with growth hormone injections may help a child with restricted growth grow more than they otherwise would. […] A leg-lengthening operation is sometimes used to treat disproportionate short stature. […] In May 2023, the Australian Government added the medicine vosoritide to the Pharmaceutical Benefits Scheme. […] Vosoritide can be used to treat achondroplasia. It works by encouraging new bone growth in children who are still growing.

• #2 Dwarfism symptoms, causes, prevention, diagnosis, treatment, medicine

  https://www.myupchar.com/en/disease/dwarfism

  Dwarfism cannot be prevented as such because it is mostly genetic. […] Growth hormone-related dwarfism can be prevented with the help of various therapies. […] Genetic testing of the baby immediately after birth can also give some time to the doctor to try out therapies to increase their height.

• #2 Russell-Silver Syndrome: Symptoms, Causes, Diagnosis & Outlook

  https://my.clevelandclinic.org/health/diseases/22184-russell-silver-syndrome

  Russell-Silver syndrome is the result of a genetic change, and theres no way to prevent the condition. […] If you plan on becoming pregnant and want to understand your risk of having a child with a genetic condition, talk with your healthcare provider about preconception genetic testing.

• #2 FDA approval grows use of growth therapy for children with achondroplasia  – CHOC Pediatrica

  https://care.choc.org/fda-approval-grows-use-of-growth-therapy-for-children-with-achondroplasia/

  The most common type of dwarfism, achondroplasia can now be treated with Voxzogo starting at birth, maximizing children’s growth potential. […] Not treating achondroplasia can severely affect the height of a child throughout life. […] To begin treatment as early as possible, it is incumbent upon clinicians to identify and refer patients with features of or similar to those of achondroplasia to experts in the following disciplines: Genetics. A timely genetic-centric diagnosis allows therapy to begin as early as possible. […] Because of this positive safety profile, the door seems wide open for long-term use of Voxzogo without the potential for negative consequences. […] To keep the growth plates open as long as possible, pediatric endocrinologists prescribe aromatase inhibitors. These inhibitors are typically used to reduce breast cancer risk by preventing hormones from becoming estrogen. […] The goal of Voxzogo use is improved linear growth or height in patients that permits them to engage in normal, independent daily living.

• #2 Dwarfism: All you need to know

  https://youngbonesclinic.com/dwarfism-all-you-need-to-know/

  Dr. Ratnav Ratan, a leading pediatric orthopedic surgeon in Delhi, explains dwarfism and its management. Suitable corrective surgeries for clubfoot, bowed legs, limb lengthening procedures, and other corrective procedures done during the early stages can improve the lives of such children as it is detected in utero, at birth, or during the growth phase. Hence, it is essential to have a comprehensive recovery plan as an experienced pediatric orthopedic suggests. […] Dr.Ratnav states that suitable orthopedic treatment done during the early stages can improve the lives of such children since it is detected in utero, at birth or during the growth phase. Hence, seeking treatment of an experienced pediatric orthopedic is utmost essential in such cases.

• #2

  https://mysupportnetwork.ie/disabilities/dwarfism/

  Restricted growth is a symptom of many different medical conditions. […] Treatment will depend upon the cause of the short stature and is likely to involve a multidisciplinary approach (seeing many different types of health professionals). […] Human growth hormone can help stimulate growth in children with a growth hormone deficiency. […] In 2002, the UKs National Institute for Health and Clinical Excellence (NICE) recommended somatropin (human growth hormone treatment) for children with a proven diagnosis of growth hormone deficiency. […] This helps to prevent short stature during adulthood. […] Replacing levels of human growth hormone appears to lower the risk of cardiovascular disease and increase bone mineral density in adults with a growth hormone deficiency, lowering their risk of bone fractures.

• #2 ‘Dwarf Pride’ Was Hard Won. Will a Growth Drug Undermine It? – The New York Times

  https://www.nytimes.com/2020/09/05/world/dwarfism-vosoritide.html

  AUCKLAND, New Zealand — It’s a question many parents of children with dwarfism have contemplated: If a medication could make them taller, would they give it to them? […] A study published this weekend in the journal The Lancet found that an experimental drug called vosoritide increased growth in children with the most common form of dwarfism to nearly the same rate as in children without the condition. […] The study has raised hope that the drug, if taken over the course of years, can make life easier for those with the condition, known as achondroplasia, including the distant prospect of alleviating major quality-of-life issues such as back pain and breathing difficulties. […] The study in The Lancet found that children who took the drug grew an additional 0.6 inches on average in one year, with minimal side effects. If taken over many years, vosoritide could produce a significant increase in adult height, though the study was limited to a year and does not address this possibility, or resolve whether the medication can ease the medical complications common to dwarfism. […] The drug — whose price has not yet been set, though it is likely to be costly — could provide an alternative to arduous limb-lengthening surgery

• #2

  https://www.bbc.co.uk/news/health-48580041

  Scientists hope a new type of medication could boost healthy growth in children born with dwarfism. […] It is experimental but experts hope the drug can stop some of the medical complications linked to stunted growth. […] Jennifer hopes the new drug treatment could help Sam avoid some of these complications. […] „We’re not fussed about height but we do want to help her avoid health issues.” […] But there is no data yet on whether the drug can prevent complications linked to restricted growth. […] Researchers say the trial results so far are promising. […] The main objective of the trial involving 35 children, sponsored by BioMarin, the pharmaceutical company that makes the drug, was to show safety and look for any adverse events or serious side-effects. […] A secondary objective was to see how much the children would grow.

• #2

  https://111.wales.nhs.uk/encyclopaedia/r/article/restrictedgrowth

  If you have particularly short legs, a leg-lengthening process known as distraction may be an option. […] Distraction can sometimes result in a significant increase in height, but it’s a lengthy treatment and has a risk of complications, so isn’t always recommended. […] It’s therefore important that you understand exactly what it involves and talk to your surgeon or doctor about the risks if it’s suggested as a possible treatment for you or your child.

• #2

  https://mysupportnetwork.ie/disabilities/dwarfism/

  Controlling chronic (long-term) conditions such as lung disease, heart disease or arthritis from an early stage can lessen the effect of these on growth. […] Treatments should focus on preventing or treating any complications that may occur in the condition that causes disproportionate short stature (DSS). […] If a person has particularly short legs, a leg-lengthening process known as distraction is an option. […] However, this can be a long procedure and is not without the risk of complications.

• #2 Dwarfism – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/dwarfism/

  Its important that both patients and their family members understand the causes, underlying conditions, and treatment options for being shorter than average. […] The growth hormone used in treatment is very similar to the one naturally produced by our bodies and is both safe and effective. […] Continual check-ups with a specialist in childrens hormones (a pediatric endocrinologist), blood tests, and X-rays are needed to keep track of the childs development. […] The treatment is a long-term commitment, and sticking to the plan is crucial for achieving the best possible results. […] Patients should also know how to administer the medication properly, where to inject it, when to take it, and how to store it correctly to make sure it remains effective. […] There could be side effects, like allergic reactions, rashes, or swelling at the injection site.

• #2 Dwarfism – Wikiwand

  https://www.wikiwand.com/en/articles/dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.[38] […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #3 Dwarfism – Wikiwand

  https://www.wikiwand.com/en/articles/dwarfism

  Many types of dwarfism are currently impossible to prevent because they are genetically caused. Genetic conditions that cause dwarfism may be identified with genetic testing, by screening for the specific variations that result in the condition. However, due to the number of causes of dwarfism, it may be impossible to determine definitively if a child will be born with dwarfism. Dwarfism resulting from malnutrition or a hormonal abnormality may be treated with an appropriate diet or hormonal therapy. Growth hormone deficiency may be remedied via injections of human growth hormone (HGH) during early life.[38] […] Genetic mutations of most forms of dwarfism caused by bone dysplasia cannot be altered yet, so therapeutic interventions are typically aimed at preventing or reducing pain or physical disability, increasing adult height, or mitigating psychosocial stresses and enhancing social adaptation. Forms of dwarfism associated with the endocrine system may be treated using hormonal therapy. If the cause is prepubescent hyposecretion of growth hormone, supplemental growth hormone may correct the abnormality. If the receptor for growth hormone is itself affected, the condition may prove harder to treat. Hypothyroidism is another possible cause of dwarfism that can be treated through hormonal therapy. Injections of thyroid hormone can mitigate the effects of the condition, but lack of proportion may be permanent.

• #3 Dwarfism – MD Searchlight

  https://mdsearchlight.com/genetic-disorders/dwarfism/

  Its important that both patients and their family members understand the causes, underlying conditions, and treatment options for being shorter than average. […] The growth hormone used in treatment is very similar to the one naturally produced by our bodies and is both safe and effective. […] Continual check-ups with a specialist in childrens hormones (a pediatric endocrinologist), blood tests, and X-rays are needed to keep track of the childs development. […] The treatment is a long-term commitment, and sticking to the plan is crucial for achieving the best possible results. […] Patients should also know how to administer the medication properly, where to inject it, when to take it, and how to store it correctly to make sure it remains effective. […] There could be side effects, like allergic reactions, rashes, or swelling at the injection site.

• #3 Dwarfism | healthdirect

  https://www.healthdirect.gov.au/dwarfism

  Dwarfism is a condition where a person is unusually short 147cm or shorter. […] Can dwarfism be prevented? […] Because there are many causes of dwarfism, including new genetic mutations, it cant be prevented. […] Treatment with growth hormone injections may help a child with restricted growth grow more than they otherwise would. […] A leg-lengthening operation is sometimes used to treat disproportionate short stature. […] In May 2023, the Australian Government added the medicine vosoritide to the Pharmaceutical Benefits Scheme. […] Vosoritide can be used to treat achondroplasia. It works by encouraging new bone growth in children who are still growing.

• #3 FDA approves first drug for genetic cause of dwarfism | STAT

  https://www.statnews.com/2021/11/19/fda-approves-first-drug-for-genetic-cause-of-dwarfism/

  The Food and Drug Administration approved the first treatment for the most common cause of dwarfism Friday, a drug that has proved to increase childrens height but has been polarizing among adults with short stature. […] BioMarin does not yet have data on whether Voxzogo can prevent the hearing loss, sleep apnea, and life-threatening skeletal problems that can result from achondroplasia, complications that take years to develop. […] Voxzogo is approved for children with achondroplasia between the ages of 5 and 18. BioMarin is conducting a study enrolling infants and younger children, with data expected next year. If the results are positive, the company expects to apply for a wider FDA label.

• #3

  https://www.bbc.co.uk/news/health-48580041

  On average, they grew at a faster rate compared with the 12 months before they started on the drug. […] But lead investigator Prof Ravi Savarirayan, from Melbourne’s Murdoch Children’s Research Institute, says: „It’s not just cosmetic. What we are trying to do is to see if we can improve these children’s health and function.”

• #3

  https://mysupportnetwork.ie/disabilities/dwarfism/

  Controlling chronic (long-term) conditions such as lung disease, heart disease or arthritis from an early stage can lessen the effect of these on growth. […] Treatments should focus on preventing or treating any complications that may occur in the condition that causes disproportionate short stature (DSS). […] If a person has particularly short legs, a leg-lengthening process known as distraction is an option. […] However, this can be a long procedure and is not without the risk of complications.

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