Materiały źródłowe

• #1 Dwarfism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20778

  Dwarfism is the medical terminology for short-stature. It is defined as height-vertex below two standard deviations (-2SD) or in the third percentile for a given age and sex. […] In the United States, 2.5 percent of the population is short. The Utah Study, a population-based survey of growth in children, concluded that endocrine disorders constitute only a small number of cases with short stature. […] Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters. Because these variations exist, it is recommended to compare the height of an individual with people from the same population only, if specific growth charts are available. Malnutrition is a notable etiology of retarded growth in kids, especially in developing countries. Many efforts have been in process by the government and non-profit organizations to curb this.

• #2 Skeletal Dysplasia: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1257787-overview

  Skeletal dysplasias represent approximately 5% of all congenital anomalies. […] The overall incidence of skeletal dysplasias is approximately 1 case per 4000-5000 births. The true incidence may be twice as high because many skeletal dysplasias do not manifest until short stature, joint symptoms, or other complications arise during childhood. […] Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries. […] The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondroplasia account for 62% of all lethal skeletal dysplasias. […] Achondroplasia is the most common nonlethal skeletal dysplasia. […] Among infants with skeletal dysplasias detected at birth, approximately 13% are stillborn, and 44% die during the perinatal period.

• #3 Skeletal Dysplasia: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1257787-overview

  Skeletal dysplasias represent approximately 5% of all congenital anomalies. […] The overall incidence of skeletal dysplasias is approximately 1 case per 4000-5000 births. The true incidence may be twice as high because many skeletal dysplasias do not manifest until short stature, joint symptoms, or other complications arise during childhood. […] Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries. […] The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondroplasia account for 62% of all lethal skeletal dysplasias. […] Achondroplasia is the most common nonlethal skeletal dysplasia. […] Among infants with skeletal dysplasias detected at birth, approximately 13% are stillborn, and 44% die during the perinatal period.

• #4 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia accounts for greater than 90% of cases of dwarfism. Although it follows an autosomal dominant pattern of inheritance with a 100% penetrant, over 80% of cases arise from a spontaneous mutation. Genetic counseling is recommended for patients. It is associated with increased mortality in early childhood, otolaryngology problems later in childhood, and increased risk of obesity into adulthood. […] Increased vigilance is required in both the evaluation and surveillance of this condition. Affected individuals can also develop joint laxity, thoracolumbar kyphosis, and spinal stenosis that may progress and contribute to morbidity as an adult. FMS is usually the first spinal manifestation observed in infants with achondroplasia. Lumbar spinal stenosis occurs in approximately 25% of achondroplastic patients. Management of achondroplasia involves a multidisciplinary team approach and anticipatory care is essential. The mean lifespan of patients with achondroplasia is slightly shorter than the average population.

• #5 Skeletal Dysplasia: Practice Essentials, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1257787-overview

  Skeletal dysplasias represent approximately 5% of all congenital anomalies. […] The overall incidence of skeletal dysplasias is approximately 1 case per 4000-5000 births. The true incidence may be twice as high because many skeletal dysplasias do not manifest until short stature, joint symptoms, or other complications arise during childhood. […] Lethal skeletal dysplasias are estimated to occur in 0.95 per 10,000 deliveries. […] The 4 most common skeletal dysplasias are thanatophoric dysplasia, achondroplasia, osteogenesis imperfecta, and achondrogenesis. Thanatophoric dysplasia and achondroplasia account for 62% of all lethal skeletal dysplasias. […] Achondroplasia is the most common nonlethal skeletal dysplasia. […] Among infants with skeletal dysplasias detected at birth, approximately 13% are stillborn, and 44% die during the perinatal period.

• #6 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia occurs in approximately 1:20,000 to 1:30,000 live births per year. The global prevalence is difficult to ascertain; however, it is estimated to affect approximately 1 to 9 individuals per 100,000 of the general population. The most extensive European population-based epidemiological study known to date calculated the prevalence to be 3.72 per 100,000 births. The study demonstrated prevalence was stable over time, yet regional differences were appreciated. As achondroplasia follows an autosomal dominant inheritance pattern, both males and females are equally affected. […] The estimated occurrence rate for this form of skeletal dysplasia in children of fathers over 50 years of age is 1 in 1,875, much higher when compared to the frequency of approximately 1 in 15,000 in the general population. Fathers with ages 35 or older had significantly increased rates of affected offspring.

• #7 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia occurs in approximately 1:20,000 to 1:30,000 live births per year. The global prevalence is difficult to ascertain; however, it is estimated to affect approximately 1 to 9 individuals per 100,000 of the general population. The most extensive European population-based epidemiological study known to date calculated the prevalence to be 3.72 per 100,000 births. The study demonstrated prevalence was stable over time, yet regional differences were appreciated. As achondroplasia follows an autosomal dominant inheritance pattern, both males and females are equally affected. […] The estimated occurrence rate for this form of skeletal dysplasia in children of fathers over 50 years of age is 1 in 1,875, much higher when compared to the frequency of approximately 1 in 15,000 in the general population. Fathers with ages 35 or older had significantly increased rates of affected offspring.

• #8 A population-based study of achondroplasia in Europe – Beyond Achondroplasia

  https://www.beyondachondroplasia.org/en/news/news-all/global/542-epidemiology-of-achondroplasia-a-population-based-study-in-europe

  The largest European population-based epidemiological study, „Epidemiology of achondroplasia: A population-based study in Europe”, was published with data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The cases of achondroplasia included in this study were collected from 28 registries in Europe registered between 1991-2015. […] The data used was provided by the EUROCAT (European Surveillance of Congenital Anomalies) […] Over the 25 years, in a total of 11,402,594 births, 434 cases with achondroplasia were reported, giving an overall prevalence of 3.72 per 100,000 births and a live birth prevalence of 3.05 per 100,000. […] An important note is the fact that prenatal detection rate significantly improved when looking by the 5-year periods (from 35.9% in 1991-1995 to 71.0% in 2011-2015).

• #9 Achondroplasia – Wikipedia

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

  Achondroplasia is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births. Another study at the same time found a rate of 1 per 10,000. A 2020 review and meta-analysis estimated a worldwide prevalence of 4.6 per 100,000.

• #10 Achondroplasia: Practice Essentials, Anatomy, Pathophysiology

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

  It has been estimated that approximately 10,000 individuals have achondroplasia in the United States. Worldwide, achondroplasia is the most common skeletal dysplasia, estimated to affect about 1 in every 40,000 children. (This number varies, depending on the source.) The worldwide population of „little people” is approximately 190,000, and about 80% of these individuals have achondroplasia; thus, approximately 150,000 persons have achondroplasia worldwide. A study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network found achondroplasia to have a prevalence of 3.72 per 100,000 births. […] Achondroplasia occurs with equal frequency in males and females. (It is inherited in an autosomal dominant manner.) Achondroplasia has no known racial predilection.

• #11 Achondroplasia: a comprehensive clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0972-6

  Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). […] Birth prevalence has been estimated in a number of populations. These studies yield fairly consistent estimates whether these are population based or hospital based assessments. Together they suggest that achondroplasia arises in about 1 in every 25,000-30,000 individuals. That, in turn, translates into around 250,000 affected persons worldwide. […] Most of those with achondroplasia will have a normal or near normal life expectancy. However, there is an increased risk for premature death related not only to sudden unexpected deaths in infancy but also, it appears, to cardiovascular complications in mid-adult life. Overall, average life span is about 10 years less than that of the general population.

• #12 Achondroplasia: Practice Essentials, Anatomy, Pathophysiology

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

  It has been estimated that approximately 10,000 individuals have achondroplasia in the United States. Worldwide, achondroplasia is the most common skeletal dysplasia, estimated to affect about 1 in every 40,000 children. (This number varies, depending on the source.) The worldwide population of „little people” is approximately 190,000, and about 80% of these individuals have achondroplasia; thus, approximately 150,000 persons have achondroplasia worldwide. A study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network found achondroplasia to have a prevalence of 3.72 per 100,000 births. […] Achondroplasia occurs with equal frequency in males and females. (It is inherited in an autosomal dominant manner.) Achondroplasia has no known racial predilection.

• #13 Achondroplasia: Practice Essentials, Anatomy, Pathophysiology

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

  It has been estimated that approximately 10,000 individuals have achondroplasia in the United States. Worldwide, achondroplasia is the most common skeletal dysplasia, estimated to affect about 1 in every 40,000 children. (This number varies, depending on the source.) The worldwide population of „little people” is approximately 190,000, and about 80% of these individuals have achondroplasia; thus, approximately 150,000 persons have achondroplasia worldwide. A study using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network found achondroplasia to have a prevalence of 3.72 per 100,000 births. […] Achondroplasia occurs with equal frequency in males and females. (It is inherited in an autosomal dominant manner.) Achondroplasia has no known racial predilection.

• #14 Achondroplasia | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/achondroplasia?lang=us

  Achondroplasia is a congenital genetic disorder resulting in rhizomelic dwarfism and is the most common skeletal dysplasia. It occurs due to sporadic mutations in the majority of cases but can be inherited as an autosomal dominant condition. Homozygous achondroplasia is lethal. […] There is a prevalence of approximately 1 in 25,000-50,000 births with males affected more frequently than females.

• #15 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia occurs in approximately 1:20,000 to 1:30,000 live births per year. The global prevalence is difficult to ascertain; however, it is estimated to affect approximately 1 to 9 individuals per 100,000 of the general population. The most extensive European population-based epidemiological study known to date calculated the prevalence to be 3.72 per 100,000 births. The study demonstrated prevalence was stable over time, yet regional differences were appreciated. As achondroplasia follows an autosomal dominant inheritance pattern, both males and females are equally affected. […] The estimated occurrence rate for this form of skeletal dysplasia in children of fathers over 50 years of age is 1 in 1,875, much higher when compared to the frequency of approximately 1 in 15,000 in the general population. Fathers with ages 35 or older had significantly increased rates of affected offspring.

• #16 A population-based study of achondroplasia in Europe – Beyond Achondroplasia

  https://www.beyondachondroplasia.org/en/news/news-all/global/542-epidemiology-of-achondroplasia-a-population-based-study-in-europe

  In this study, 166 cases of de novo cases were identified out of the 208 cases of achondroplasia with known information about family history. […] Fathers in age-groups 35-39 years and 40+ years had a significantly higher risk of de novo achondroplasia when compared to the risk of fathers under 30 years (in line with other published researches);

• #17 Achondroplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/achondroplasia/

  Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. […] Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene. In the remaining cases, people with achondroplasia inherit an altered FGFR3 gene from one or two affected parents. […] Individuals who inherit two altered copies of the FGFR3 gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure.

• #18 Dwarfism and genetics | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/dwarfism-and-genetics

  Dwarfism, defined as a height of less than 4 feet, 10 inches in adults, encompasses over three hundred distinct conditions, primarily driven by genetic factors. […] Diagnosis often relies on physical characteristics, imaging techniques, and genetic testing, while treatment options may include hormone therapies and surgical interventions. […] Genetic counseling plays a crucial role in informing families about the implications of dwarfism, promoting understanding and acceptance within communities. […] Dwarfism, of which there are several hundred forms, occurs in approximately one in every ten thousand births. […] Approximately 85 percent of little people are born to parents of average height. […] The most common type of dwarfism, achondroplasia, is an autosomal dominant trait, but in 80 percent of cases, it appears in children born to normal parents as a result of mutations in the sperm or egg.

• #19 Achondroplasia Growth Charts – Download Growth Charts for Achondroplasia

  https://www.achondroplasia-growthcharts.com/

  Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. […] The growth chart booklet covers both infancy (0-4 years) and childhood-adolescence (4-20 years) at separate charts. […] The chart collection also include charts for weight and BMI as well as the body proportion measurements sitting height, relative sitting height, leg length, arm span, and foot length. […] Macrocephaly is typical for achondroplasia although at birth head circumference is usually only marginally increased (mean 36.7 cm). Head size increases rapidly during the first year of life and about 90% of adult head circumference is achieved by 2 years of age. […] The clinical growth charts were constructed in cooperation with PC PAL, a company specialized in growth monitoring software.

• #20 Real-world evidence in achondroplasia: considerations for a standardized data set | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02755-w

  Achondroplasia is the most common form of short-stature skeletal dysplasia, with an estimated worldwide birth prevalence of 4.6 per 100,000. […] Real-world evidence (RWE) is a key instrument to better understand rare diseases, including their prevalence, natural history, and unmet medical needs. […] Of 793 rare disease registries identified across 36 countries in the Orphanet Network, none is currently specific to achondroplasia. […] The development of internationally applicable, standardized, prospective registries that capture long-term data in a consistent manner, particularly in the context of new therapeutic approaches, would improve understanding of the natural history of achondroplasia, quality of life in people with the condition, the outcomes associated with clinical management, and knowledge gaps.

• #21 Real-world evidence in achondroplasia: considerations for a standardized data set | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02755-w

  Achondroplasia is the most common form of short-stature skeletal dysplasia, with an estimated worldwide birth prevalence of 4.6 per 100,000. […] Real-world evidence (RWE) is a key instrument to better understand rare diseases, including their prevalence, natural history, and unmet medical needs. […] Of 793 rare disease registries identified across 36 countries in the Orphanet Network, none is currently specific to achondroplasia. […] The development of internationally applicable, standardized, prospective registries that capture long-term data in a consistent manner, particularly in the context of new therapeutic approaches, would improve understanding of the natural history of achondroplasia, quality of life in people with the condition, the outcomes associated with clinical management, and knowledge gaps.

• #22 Real-world evidence in achondroplasia: considerations for a standardized data set | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02755-w

  Long-term, high-quality RWE is needed to provide insights into the natural history of achondroplasia, leading to better understanding of patient experiences and perspectives, as well as clinical outcomes associated with current and future therapeutic approaches. […] Establishing regional, nationwide, or multinational registries that collect a predefined set of data elements across age spans will provide real-time prospective and longitudinal information and may be valuable in answering clinical questions. […] Despite differences across regions, it should be feasible to document a minimum dataset at a country level, using the key elements identified during this process, with the flexibility to add additional country-specific criteria and to pool data to examine clinical outcomes associated with achondroplasia and its treatment.

• #23 Primordial Dwarfism Market Size, Competitors & Forecast

  https://www.researchandmarkets.com/report/global-primordial-dwarfism-drug-market?srsltid=AfmBOoqCj55Vfwo9YOTJgONdcOTCOJpmnb8A7-Hn3gKQNnMg6fg5V2o_

  The Primordial Dwarfism epidemiology division provide insights about historical and current Primordial Dwarfism patient pool and forecasted trend for every seven major countries. […] The disease epidemiology covered in the report provides historical as well as forecasted Primordial Dwarfism epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Primordial Dwarfism epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan. […] The report provides insights into different therapeutic candidates in Phase II, and Phase III stage. […] The report covers the detailed information of collaborations, acquisition and merger, licensing, patent details and other information for Primordial Dwarfism emerging therapies.

• #24 Primordial Dwarfism – Market Insight, Epidemiology, and Market Forecast – 2034

  https://www.giiresearch.com/report/del1506083-primordial-dwarfism-market-insight-epidemiology.html

  The Primordial Dwarfism epidemiology division provide insights about historical and current Primordial Dwarfism patient pool and forecasted trend for every seven major countries. It helps to recognize the causes of current and forecasted trends by exploring numerous studies and views of key opinion leaders. This part of the DelveInsight report also provides the diagnosed patient pool and their trends along with assumptions undertaken. […] The disease epidemiology covered in the report provides historical as well as forecasted Primordial Dwarfism epidemiology scenario in the 7MM covering the United States, EU5 countries (Germany, Spain, Italy, France, and the United Kingdom), and Japan from 2020 to 2034. […] The epidemiology segment also provides the Primordial Dwarfism epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom), and Japan.

• #25 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  Achondroplasia requires multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. […] Different guidelines and recommendations have been developed to optimise the follow-up of achondroplasia, of which the most important are the recommendations of the American Academy of Pediatrics, published in 2005 and recently updated, the Japanese clinical practice guidelines, the first European consensus on principles of management for achondroplasia and the International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. […] Therefore, these recommendations must be implemented in everyday clinical practice, adapting them to the specific circumstances of each health care system.

• #26 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  Multidisciplinary follow-up is required from diagnosis, as achondroplasia is associated with increased morbidity and potentially fatal complications and therefore affected patients may benefit from a scheduled follow-up plan. […] The First European Consensus and the International Consensus recommendations, both published in 2021, underscore this aspect, especially for the first 2 years of life. […] The American Association of Pediatrics has published a timeline for the health supervision of people with achondroplasia through the lifespan, with screening at each time point requiring anthropometric measurements, a physical examination, a neurological examination and an otorhinolaryngology evaluation. […] Therefore, it is essential to integrate these recommendations into daily clinical practice, taking into account the particular situation of each health system.

• #27 International consensus guidelines on the implementation and monitoring of vosoritide therapy in individuals with achondroplasia | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-024-01074-9

  Vosoritide, approved for use in 2021, is the first pharmacological, precision treatment for achondroplasia. […] As clinicians worldwide are now prescribing vosoritide, there is a need for treatment-specific guidelines that complement existing management guidelines. […] The present guidelines aim to provide practical guidance for professionals and health services worldwide on vosoritide use in individuals with achondroplasia. […] The frequency and nature of ongoing monitoring and evaluation should be tailored according to patient age. […] The response to vosoritide treatment can vary in magnitude and timing. […] The decision to cease vosoritide can be made at any point after thorough counselling and goals discussion with the patient and care-giver. […] Spinal health should continue to be monitored after cessation of vosoritide treatment per standard of care. […] These expert guidelines recommend a minimum set of requirements and practical framework to optimize patient care and evaluate real-world outcomes of this treatment systematically, as a supplement to already established consensus guidelines for management and care of individuals with achondroplasia.

• #28 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia accounts for greater than 90% of cases of dwarfism. Although it follows an autosomal dominant pattern of inheritance with a 100% penetrant, over 80% of cases arise from a spontaneous mutation. Genetic counseling is recommended for patients. It is associated with increased mortality in early childhood, otolaryngology problems later in childhood, and increased risk of obesity into adulthood. […] Increased vigilance is required in both the evaluation and surveillance of this condition. Affected individuals can also develop joint laxity, thoracolumbar kyphosis, and spinal stenosis that may progress and contribute to morbidity as an adult. FMS is usually the first spinal manifestation observed in infants with achondroplasia. Lumbar spinal stenosis occurs in approximately 25% of achondroplastic patients. Management of achondroplasia involves a multidisciplinary team approach and anticipatory care is essential. The mean lifespan of patients with achondroplasia is slightly shorter than the average population.

• #29 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia accounts for greater than 90% of cases of dwarfism. Although it follows an autosomal dominant pattern of inheritance with a 100% penetrant, over 80% of cases arise from a spontaneous mutation. Genetic counseling is recommended for patients. It is associated with increased mortality in early childhood, otolaryngology problems later in childhood, and increased risk of obesity into adulthood. […] Increased vigilance is required in both the evaluation and surveillance of this condition. Affected individuals can also develop joint laxity, thoracolumbar kyphosis, and spinal stenosis that may progress and contribute to morbidity as an adult. FMS is usually the first spinal manifestation observed in infants with achondroplasia. Lumbar spinal stenosis occurs in approximately 25% of achondroplastic patients. Management of achondroplasia involves a multidisciplinary team approach and anticipatory care is essential. The mean lifespan of patients with achondroplasia is slightly shorter than the average population.

• #30 Achondroplasia: a comprehensive clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0972-6

  A number of studies have provided important additional information. For example, Reid et al. confirmed that craniocervical compression can cause non-lethal but severe respiratory problems, and that a complex interplay of restrictive, obstructive and centrally caused respiratory issues in infants with achondroplasia can be difficult to sort out in practice. […] The possibility that infants with achondroplasia are at increased risk for unexpected death was raised as early as 1982 by Pauli Lebovitz and Bland Emery. […] A standard assessment needs to include the following components: Neurologic history and neurologic examination, the latter emphasizing whether there is hypotonia more severe than typical for babies with achondroplasia, and whether hyperreflexia or clonus is demonstrable. […] The risk of death remains uncertain, consensus has developed that it is substantial. Hecht and her colleagues have estimated that the risk for death in the first year of life may be as high as 7.5%.

• #31 Achondroplasia: a comprehensive clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0972-6

  Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). […] Birth prevalence has been estimated in a number of populations. These studies yield fairly consistent estimates whether these are population based or hospital based assessments. Together they suggest that achondroplasia arises in about 1 in every 25,000-30,000 individuals. That, in turn, translates into around 250,000 affected persons worldwide. […] Most of those with achondroplasia will have a normal or near normal life expectancy. However, there is an increased risk for premature death related not only to sudden unexpected deaths in infancy but also, it appears, to cardiovascular complications in mid-adult life. Overall, average life span is about 10 years less than that of the general population.

• #32 Campomelic dwarfism | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/campomelic-dwarfism-1?embed_domain=hackmd.io%252F%2540yipuafecsl2jsu8smr5njq%252Fbnjhjgjghjghjgh&lang=us

  Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births. […] Campomelic dysplasia is not compatible with long term survival and 97% of patients die within their first year due to respiratory insufficiency.

• #33 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOooXLozEvUB7iNJp4L596wjulnlZ0bLYsCRsqYJeRHczS8ozhfPI

  Teaching Assistants (tas) are described as key figures in the inclusion of disabled young people in mainstream schools. […] This paper contributes to such insights by exploring the experiences of young people with dwarfism in secondary education with their tas in the United Kingdom, drawing on their qualitative, first-hand accounts. […] I engage in a Foucauldian analysis of tas support, where I argue that, under the guise of support, disabled young people sustain tas panoptic surveillance, aiming at their normalisation. […] Nevertheless, the stories reveal modes of surveillance that go beyond panopticism, such as panauralism. […] Moreover, the stories demonstrate how young people resist to their surveillance by re-turning the gaze to their tas, exercising the synoptic gaze. […] This paper takes a similar stance to explore critically how the institutional support provided by tas to disabled young people is not benevolent, but, under the guise of support, disabled students find themselves under adult surveillance, aiming at their normalisation (Foucault 1977).

• #34 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOooXLozEvUB7iNJp4L596wjulnlZ0bLYsCRsqYJeRHczS8ozhfPI

  The stories of surveillance shared so far illustrate how tas exercise panoptic surveillance on the young people in the classroom as part of their institutional role and with the purpose of producing the docile, self-governed subject. […] The findings have been divided into three sections based on the type of surveillance: a) stories of panoptic surveillance b) stories of panaural surveillance and c) stories of synoptic surveillance. […] The young people could not escape their tas surveillance, who did not leave them out of their sight at any moment, indicating the hierarchical nature of surveillance. […] The stories have demonstrated that disabled young people are not passive towards their surveillance, but they develop a range of resisting practices to the governance of their bodies and their conduct, such as the synoptic gaze.

• #35 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOooXLozEvUB7iNJp4L596wjulnlZ0bLYsCRsqYJeRHczS8ozhfPI

  The stories of surveillance shared so far illustrate how tas exercise panoptic surveillance on the young people in the classroom as part of their institutional role and with the purpose of producing the docile, self-governed subject. […] The findings have been divided into three sections based on the type of surveillance: a) stories of panoptic surveillance b) stories of panaural surveillance and c) stories of synoptic surveillance. […] The young people could not escape their tas surveillance, who did not leave them out of their sight at any moment, indicating the hierarchical nature of surveillance. […] The stories have demonstrated that disabled young people are not passive towards their surveillance, but they develop a range of resisting practices to the governance of their bodies and their conduct, such as the synoptic gaze.

• #36 Stories of Surveillance and Resistance: Young People with Dwarfism and Teaching Assistants in Secondary Schools in the United Kingdom in: Journal of Disability Studies in Education Volume 4 Issue 1 (2024)

  https://brill.com/view/journals/jdse/4/1/article-p1_001.xml?srsltid=AfmBOooXLozEvUB7iNJp4L596wjulnlZ0bLYsCRsqYJeRHczS8ozhfPI

  Specifically, this paper examines how the young people with dwarfism experienced the tas support as a form of surveillance, its repercussions, and how they attempted to resist to it. […] The young peoples stories also provide nuanced understandings of surveillance and resistance, which enrich Foucaults discussion of those concepts and how these have been utilised in Critical Disability Studies (cf. Tremain 2015). […] The literature on tas and inclusion, however, has often focused on specific themes, such as their role, the types of support they offer, their benefits and drawbacks, their involvement with the inclusion of disabled students, their deployment, and their training, which Giangreco (2021: 279) describes as status quo thinking. […] This paper takes a difference stance towards tas support, that is, how such support comes at the expense of disabled young people finding themselves under incessant, adult surveillance, with the hidden agenda of normalisation.

• #37 Dwarfism and genetics | EBSCO Research Starters

  https://www.ebsco.com/research-starters/health-and-medicine/dwarfism-and-genetics

  Geneticists have observed that fathers who are thirty-five years of age or older are more likely to have children with achondroplasia as a result of mutations in their sperm. […] Genetic counseling as well as family and public education regarding dwarfism and growth problems can bring greater awareness of dwarfism to communities and allow parents to make good choices. […] The type, symptoms, and severity of complications vary from person to person, but most little people have an average lifespan.

• #38 Achondroplasia | Doctor

  https://patient.info/doctor/achondroplasia

  Achondroplasia is apparent at birth and has a birth prevalence of 1 in 20,000-30,000 live-born infants. Although it is inherited as an autosomal dominant condition, 80% of cases occur sporadically. […] Incidence increases with paternal age. […] For couples of average stature who have a child with achondroplasia, the risk of recurrence is less than 1%, reflecting the risk of germline mosaicism.

• #39 Achondroplasia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/achondroplasia/

  Achondroplasia is the most common type of short-limbed dwarfism. The condition occurs in 1 in 15,000 to 40,000 newborns. […] Achondroplasia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 80 percent of people with achondroplasia are born to parents who do not have the condition and are of average heights; these cases are caused by new variants in the FGFR3 gene. In the remaining cases, people with achondroplasia inherit an altered FGFR3 gene from one or two affected parents. […] Individuals who inherit two altered copies of the FGFR3 gene typically have a severe form of achondroplasia that causes extreme shortening of the bones and an underdeveloped rib cage. These individuals are usually stillborn or die shortly after birth from respiratory failure.

• #40 Orphanet: Achondroplasia

  https://www.orpha.net/en/disease/detail/15

  Achondroplasia estimated incidence is at about 1/25,000 live births worldwide. […] There are no clinical diagnostic criteria for achondroplasia. […] Inheritance is autosomal dominant so genetic counseling is warranted. […] Management is multidisciplinary and anticipatory care is essential. […] There is only a slight decrease in life expectancy compared to the general population, potentially due to cardiovascular disease.

• #41 A population-based study of achondroplasia in Europe – Beyond Achondroplasia

  https://www.beyondachondroplasia.org/en/news/news-all/global/542-epidemiology-of-achondroplasia-a-population-based-study-in-europe

  The largest European population-based epidemiological study, „Epidemiology of achondroplasia: A population-based study in Europe”, was published with data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The cases of achondroplasia included in this study were collected from 28 registries in Europe registered between 1991-2015. […] The data used was provided by the EUROCAT (European Surveillance of Congenital Anomalies) […] Over the 25 years, in a total of 11,402,594 births, 434 cases with achondroplasia were reported, giving an overall prevalence of 3.72 per 100,000 births and a live birth prevalence of 3.05 per 100,000. […] An important note is the fact that prenatal detection rate significantly improved when looking by the 5-year periods (from 35.9% in 1991-1995 to 71.0% in 2011-2015).

• #42 Achondroplasia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK559263/

  Achondroplasia occurs in approximately 1:20,000 to 1:30,000 live births per year. The global prevalence is difficult to ascertain; however, it is estimated to affect approximately 1 to 9 individuals per 100,000 of the general population. The most extensive European population-based epidemiological study known to date calculated the prevalence to be 3.72 per 100,000 births. The study demonstrated prevalence was stable over time, yet regional differences were appreciated. As achondroplasia follows an autosomal dominant inheritance pattern, both males and females are equally affected. […] The estimated occurrence rate for this form of skeletal dysplasia in children of fathers over 50 years of age is 1 in 1,875, much higher when compared to the frequency of approximately 1 in 15,000 in the general population. Fathers with ages 35 or older had significantly increased rates of affected offspring.

• #43 Dwarfism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20778

  Dwarfism is the medical terminology for short-stature. It is defined as height-vertex below two standard deviations (-2SD) or in the third percentile for a given age and sex. […] In the United States, 2.5 percent of the population is short. The Utah Study, a population-based survey of growth in children, concluded that endocrine disorders constitute only a small number of cases with short stature. […] Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters. Because these variations exist, it is recommended to compare the height of an individual with people from the same population only, if specific growth charts are available. Malnutrition is a notable etiology of retarded growth in kids, especially in developing countries. Many efforts have been in process by the government and non-profit organizations to curb this.

• #44 Dwarfism | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20778

  Dwarfism is the medical terminology for short-stature. It is defined as height-vertex below two standard deviations (-2SD) or in the third percentile for a given age and sex. […] In the United States, 2.5 percent of the population is short. The Utah Study, a population-based survey of growth in children, concluded that endocrine disorders constitute only a small number of cases with short stature. […] Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters. Because these variations exist, it is recommended to compare the height of an individual with people from the same population only, if specific growth charts are available. Malnutrition is a notable etiology of retarded growth in kids, especially in developing countries. Many efforts have been in process by the government and non-profit organizations to curb this.

• #45 Real-world evidence in achondroplasia: considerations for a standardized data set | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02755-w

  Achondroplasia is the most common form of short-stature skeletal dysplasia, with an estimated worldwide birth prevalence of 4.6 per 100,000. […] Real-world evidence (RWE) is a key instrument to better understand rare diseases, including their prevalence, natural history, and unmet medical needs. […] Of 793 rare disease registries identified across 36 countries in the Orphanet Network, none is currently specific to achondroplasia. […] The development of internationally applicable, standardized, prospective registries that capture long-term data in a consistent manner, particularly in the context of new therapeutic approaches, would improve understanding of the natural history of achondroplasia, quality of life in people with the condition, the outcomes associated with clinical management, and knowledge gaps.

• #46 Real-world evidence in achondroplasia: considerations for a standardized data set | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-023-02755-w

  Long-term, high-quality RWE is needed to provide insights into the natural history of achondroplasia, leading to better understanding of patient experiences and perspectives, as well as clinical outcomes associated with current and future therapeutic approaches. […] Establishing regional, nationwide, or multinational registries that collect a predefined set of data elements across age spans will provide real-time prospective and longitudinal information and may be valuable in answering clinical questions. […] Despite differences across regions, it should be feasible to document a minimum dataset at a country level, using the key elements identified during this process, with the flexibility to add additional country-specific criteria and to pool data to examine clinical outcomes associated with achondroplasia and its treatment.

• #47 Achondroplasia Growth Charts – Download Growth Charts for Achondroplasia

  https://www.achondroplasia-growthcharts.com/

  Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. […] The growth chart booklet covers both infancy (0-4 years) and childhood-adolescence (4-20 years) at separate charts. […] The chart collection also include charts for weight and BMI as well as the body proportion measurements sitting height, relative sitting height, leg length, arm span, and foot length. […] Macrocephaly is typical for achondroplasia although at birth head circumference is usually only marginally increased (mean 36.7 cm). Head size increases rapidly during the first year of life and about 90% of adult head circumference is achieved by 2 years of age. […] The clinical growth charts were constructed in cooperation with PC PAL, a company specialized in growth monitoring software.

• #48 Achondroplasia: a comprehensive clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0972-6

  A number of studies have provided important additional information. For example, Reid et al. confirmed that craniocervical compression can cause non-lethal but severe respiratory problems, and that a complex interplay of restrictive, obstructive and centrally caused respiratory issues in infants with achondroplasia can be difficult to sort out in practice. […] The possibility that infants with achondroplasia are at increased risk for unexpected death was raised as early as 1982 by Pauli Lebovitz and Bland Emery. […] A standard assessment needs to include the following components: Neurologic history and neurologic examination, the latter emphasizing whether there is hypotonia more severe than typical for babies with achondroplasia, and whether hyperreflexia or clonus is demonstrable. […] The risk of death remains uncertain, consensus has developed that it is substantial. Hecht and her colleagues have estimated that the risk for death in the first year of life may be as high as 7.5%.

• #49 Achondroplasia: a comprehensive clinical review | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0972-6

  A number of studies have provided important additional information. For example, Reid et al. confirmed that craniocervical compression can cause non-lethal but severe respiratory problems, and that a complex interplay of restrictive, obstructive and centrally caused respiratory issues in infants with achondroplasia can be difficult to sort out in practice. […] The possibility that infants with achondroplasia are at increased risk for unexpected death was raised as early as 1982 by Pauli Lebovitz and Bland Emery. […] A standard assessment needs to include the following components: Neurologic history and neurologic examination, the latter emphasizing whether there is hypotonia more severe than typical for babies with achondroplasia, and whether hyperreflexia or clonus is demonstrable. […] The risk of death remains uncertain, consensus has developed that it is substantial. Hecht and her colleagues have estimated that the risk for death in the first year of life may be as high as 7.5%.

• #50 Achondroplasia: Update on diagnosis, follow-up and treatment | Anales de Pediatría

  https://www.analesdepediatria.org/en-achondroplasia-update-on-diagnosis-follow-up-articulo-S2341287922002228

  Achondroplasia requires multidisciplinary follow-up, with the aim of preventing and managing complications, improving the quality of life of people who suffer from it and favoring their independence and social inclusion. […] Different guidelines and recommendations have been developed to optimise the follow-up of achondroplasia, of which the most important are the recommendations of the American Academy of Pediatrics, published in 2005 and recently updated, the Japanese clinical practice guidelines, the first European consensus on principles of management for achondroplasia and the International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia. […] Therefore, these recommendations must be implemented in everyday clinical practice, adapting them to the specific circumstances of each health care system.

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