IdiopathicFamilial short statureEvaluation of short statureSevereAbnormalitiesGeneticPathogenicAnomaliesVariantsGenesChronicLimbSyndromeCongenitalPatientsStandard deviationsDevelopmentalSkeletalGeneAchondroplasiaDisorderMicrocephalySymptomsDeficiencyDiseasePubertyGrowthClinicalChildhoodEndocrineAdultDisordersPsychosocialRisk FactorsPresentationHeightOverweightAsymptomaticIndividual'sDysplasiaUnknownChildren
Idiopathic16
- FDA indications in children include GH deficiency (GHD), Turner syndrome, idiopathic short stature, small for gestational age with failure to attain normal growth percentiles, Prader-Willi syndrome (PWS), chronic renal insufficiency, Noonan syndrome, and short stature due to short stature homeobox gene haploinsufficiency. (ajmc.com)
- 1 Idiopathic short stature (ISS), a much more common condition, affects 1 in 100 children. (ajmc.com)
- Deodati A, Cianfarani S. Impact of growth hormone therapy on adult height of children with idiopathic short stature: systemic review. (edu.pk)
- Consensus statement on diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormones Research Society, and Lawson Wilkins Pediatric Society, and the European Society for Paediatric Endocrinology workshop. (edu.pk)
- Towards a consensus on the definition of idiopathic short stature. (edu.pk)
- Consensus statement on the diagnosis and treatment of children with idiopathic short stature: a summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop. (athensbjr.com)
- Advances in our understanding of how genetic factors influence height have made it clear that many cases labeled idiopathic short stature actually have an underlying genetic etiology. (endocrinologyadvisor.com)
- 1 A range of etiologies may result in short stature, including primary and secondary growth disorders, although many cases are deemed idiopathic short stature (ISS). (endocrinologyadvisor.com)
- Objective To analyze the types and frequency of genetic variation in children with idiopathic short stature (ISS), in order to provide new ideas for the diagnosis and treatment of ISS. (magtech.com.cn)
- The cumulative detection rate of genetic variation in patients with idiopathic short stature was about 3.85%, and the diagnosis rate by genetic analysis was about 36.4% in patients with clinically suspected genetic variation. (magtech.com.cn)
- Types and frequencies of gene variants in idiopathic short stature children[J]. Chinese Journal of Child Health Care, 2023, 31(6): 678-683. (magtech.com.cn)
- Consensus statement on the diagnosis and treatment of children with idiopathic short stature:A summary of the Growth Hormone Research Society, the Lawson Wilkins Pediatric Endocrine Society, and the European Society for Paediatric Endocrinology Workshop[J]. Clin Endocrinol Metab, 2008, 93(11):4210-4217. (magtech.com.cn)
- It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp. (eurospe.org)
- Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. (biomedcentral.com)
- Unlike previous surveys, most of our patients had constitutional delay often associated with a family history of delay, or an abnormality of the hypothalamic-pituitary axis either idiopathic or secondary to an intracranial tumor as the etiology of delayed puberty. (elsevierpure.com)
- Background: Single nucleotide polymorphisms (SNPs) within the promotor and 5 UTR of the transcriptional factor, ZBTB38, are associated with adult height and idiopathic short stature although their precise auxological effects have not previously been described. (eurospe.org)
Familial short stature1
- Etiology familial short stature. (albionfoundation.org)
Evaluation of short stature2
- Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. (endocrine.org)
- It has been reported that a pathologic cause is identified in only 5% of children who are referred to a specialist for evaluation of short stature, and an estimated 80% of cases are classified as ISS. (endocrinologyadvisor.com)
Severe5
- Type III is severe and the main signs include severe short stature, a triangular face, severe scoliosis, grayish sclera, and DI. (orpha.net)
- Antepartum risk factors for moderate to severe hypoxic ischemic encephalopathy included nulliparity, previous cesarean delivery, short stature, overweight, gestational age, occiput posterior presentation and birthweight. (nih.gov)
- Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. (endocrine.org)
- 3 While certain rare genetic mutations can result in severe growth disorders such as Laron syndrome and achondroplasia, most cases of short stature with a genetic etiology likely result from a combination of genetic variants that each exert small effects on height. (endocrinologyadvisor.com)
- Etiology of severe short stature below-3 S in a screened Finnish population[J].Eur J Endocrinol, 2020, 183(5):481-488. (magtech.com.cn)
Abnormalities2
- Aarskog syndrome is a rare genetic condition characterized by short stature and multiple facial, limb and genital abnormalities. (web.app)
- The hallmarks of Hallermann Streiff Syndrome affected individuals are typical a 'bird-like' face with craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature. (seekhealthz.com)
Genetic9
- The guideline gives new and clinically relevant insights into the etiology of short stature after SGA birth, including novel knowledge about (epi)genetic causes. (endocrine.org)
- It has been agreed by consensus that "Constitutional short stature" is a condition in which the height of an individual is more than 2 standard deviations (SD) below the corresponding mean height for a given age, sex, and population group without evidence of systemic, endocrine, nutritional, or genetic diseases. (athensbjr.com)
- We defined and applied factors that increased the likelihood of monogenic causes of short stature in diagnostic genetic tests based on next-generation sequencing (NGS) in 814 patients with short stature and at least 1 other factor. (endocrine.org)
- How Has Genetic Testing Changed the Diagnosis of Short Stature in Children? (endocrinologyadvisor.com)
- 6 Similar results were observed in a 2018 study and published in Genetics in Medicine , which identified a genetic cause in 14% of patients with isolated short stature. (endocrinologyadvisor.com)
- Genetic testing yields more useful results than traditional hormonal testing in children with isolated short stature, indicating that genetic testing may be appropriate as first-line evaluation in these patients. (endocrinologyadvisor.com)
- Through clinical characterization analysis and molecular genetics detection, different types of genetic variation related to growth plate development can be found, which can help to clarify the etiology of ISS. (magtech.com.cn)
- The genetic etiology of MCPH is heterogeneous and comprises more than 20 loci, nearly all following a recessive inheritance pattern. (aku.edu)
- A genetic or pathological condition that is characterized by short stature and undersize. (bvsalud.org)
Pathogenic2
- 3 For example, in study results published in The Journal of Clinical Endocrinology & Metabolism by Freire, et al, 15% of patients with isolated short stature born small for gestational age (SGA) were found to have pathogenic or likely pathogenic variants in genes associated with growth disorders. (endocrinologyadvisor.com)
- Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel. (cdc.gov)
Anomalies1
Variants2
- Missense variants of codon Arg1809 are associated with pulmonic stenosis, café au lait spots, learning disabilities, and short stature but are not associated with neurofibromas. (arupconsult.com)
- We found P/LP variants among 111 genes, and RASopathies comprised the most important etiology. (endocrine.org)
Genes1
- Rather than a single gene variant causing short stature, there is likely a "host of causative genes" that each contribute 1% to 2% or even less to the etiology of patients classified as ISS or SGA. (endocrinologyadvisor.com)
Chronic3
- 2 Other relatively rare conditions that also affect growth in children are Turner syndrome (TS), small for gestational age (SGA) (with failure to attain the lower portion of the normal growth curve by age 2), Prader-Willi syndrome (PWS), chronic renal insufficiency (CRI), Noonan syndrome, and short stature due to short stature homeobox (SHOX) gene haploinsufficiency ( Table 1 ). (ajmc.com)
- Traditionally, children with short stature have undergone extensive medical evaluation, often focused on identifying hormonal etiologies of short stature or other chronic medical conditions that affect growth," wrote Andrew Dauber, MD, MMSc, chief of endocrinology at Children's National Health System in Washington, DC, in a commentary published online in February 2019 in The Journal of Clinical Endocrinology & Metabolism . (endocrinologyadvisor.com)
- Learning outcomes Emphysema Chronic bronchitis Asthma Bronchiectasis Define Etiology Pathogenesis Morphology Clinical features Conditions related to the disease 2 Aug 29, 2018 - Explore sultan gandhi's board "Restrictive vs obstructive" on Pinterest. (gronbach.us)
Limb2
- Limb lengthening in cases of achondroplasia aims to: increase stature, correct limb deformities, improve interaction with the surroundings (reach, use of furniture, driving etc) and restore body proportions. (athensbjr.com)
- Aldegheri R, Dall'Oca C. Limb lengthening in short stature patients. (athensbjr.com)
Syndrome6
- EVC belongs to the short rib-polydactyly group (SRP) and these SRPs, especially type III (Verma-Naumoff syndrome), are discussed in the prenatal differential diagnosis. (orpha.net)
- Symptoms of Say-Meyer syndrome other than developmental delay and short stature include Intellectual disability. (wikipedia.org)
- Say-Meyer syndrome has both facial and cranial deformities as well as short stature and developmental delay. (wikipedia.org)
- Conclusion: Isolated GHD, CDGP and FSS, primary hypothyroidism and Turner's syndrome are the most common causes of short stature in our set up. (edu.pk)
- References Down syndrome is an abnormality of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. (msdmanuals.com)
- Prognosis of this syndrome is poor, but most patients now survive, and about half of the patients may be weaned from PN at adolescence, but experience failure to thrive and final short stature. (biomedcentral.com)
Congenital3
- Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. (beds.ac.uk)
- Patients with short stature had increased use of internal lengthening and self-payment compared to patients with congenital, post-traumatic or other diagnoses. (stlrjournal.com)
- The etiology of central nerve injury can vary from a congenital anomaly, vascular accidents, spinal cord injuries to degenerative illnesses. (bvsalud.org)
Patients4
- Patients with type IV have moderate short stature, variable severity of scoliosis, grayish or white sclera, and some have DI. (orpha.net)
- Our study provides novel insights into the current understanding of the etiology of short stature in patients with different phenotypes. (endocrine.org)
- Patients with short stature had higher use of internal lengthening technique and self-pay for payment method. (stlrjournal.com)
- Short stature was the most common presenting complaint both alone and as one of several complaints (84%), whereas delayed puberty as a single or one of several complaints was recognized in slightly less than half (43%) of our patients. (elsevierpure.com)
Standard deviations3
- The diagnostic criteria for GHD are initially based on short stature with a height of 2 standard deviations (SDs) less than the normal population mean, and growth failure, regardless of when during development the growth failure initiates. (ajmc.com)
- Children with short stature have a height that is more than 2 standard deviations below the mean for their age, sex, and population. (endocrinologyadvisor.com)
- Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). (beds.ac.uk)
Developmental3
- It is a disorder that is mostly characterized as developmental delay and short stature. (wikipedia.org)
- Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. (eurospe.org)
- Autosomal recessive intellectual developmental disorder-43 (MRT43) is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features. (nih.gov)
Skeletal1
Gene1
- The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. (nih.gov)
Achondroplasia1
- All people with achondroplasia have short stature. (athensbjr.com)
Disorder1
- Thus, it is important to obtain measurements of parents' height in evaluating children with short stature to consider the possibility of an inherited disorder. (endocrinologyadvisor.com)
Microcephaly1
- microcephaly, short stature, and characteristic facies. (msdmanuals.com)
Symptoms1
- Should Controls With Respiratory Symptoms Be Excluded From Case-Control Studies of Pneumonia Etiology? (ox.ac.uk)
Deficiency3
- Short stature and GH deficiency sustainable in the dosage will not … HUMAN GROWTH HORMONE (HGH) 101 John. (queobathrooms.co.uk)
- Nor have they been muscle size, while a small doses can be used for general with growth hormone deficiency due to an established etiology is acceptable. (queobathrooms.co.uk)
- deficiency, which results in slow growth and unusually short stature. (medlineplus.gov)
Disease1
- The etiology of the disease remains obscure although environmental factors are assumed to be involved. (ac.be)
Puberty3
- Type V is characterized by mild to moderate short stature, metaphyseal dysplasia at birth, dislocation of the radial head, mineralized interosseous membranes of the forearm and lower leg, hyperplastic callus (particularly when growth is more rapid e.g. during infancy or puberty), white sclera, and no DI. (orpha.net)
- To determine the etiology of delayed puberty in a referral population, we analyzed the clinical features and endocrine studies in 146 children seen between 1975 and 1985 whose pubertal onset was greater than 2 SD from the mean. (elsevierpure.com)
- Krainz, PL, Hanna, CE & LaFranchi, S 1987, ' Etiology of Delayed Puberty in 146 Children Evaluated Over a 10 Year Period ', Journal of Pediatric Endocrinology and Metabolism , vol. 2, no. 4, pp. 165-172. (elsevierpure.com)
Growth1
Clinical1
- Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. (eurospe.org)
Childhood2
- It is becoming increasingly apparent that different forms of childhood malnutrition, from short stature (SS) and underweight to overweight, are growing global health concerns affecting developed and developing countries alike [ 1 , 2 ]. (biomedcentral.com)
- Schnell FN, Bannard JR. Short Stature in Childhood and Adolescence: Part 1: Medical management. (edu.pk)
Endocrine1
- We designed this study to determine the cause of short stature in children and adolescents referred to our endocrine unit for evaluation and further management. (edu.pk)
Adult1
- Adding GnRHa treatment could be considered when short adult height is expected at pubertal onset. (endocrine.org)
Disorders1
- Short stature for example, has been shown to be associated with disorders of the cardiovascular system [ 3 ]. (biomedcentral.com)
Psychosocial2
- This article will review the current evidence supporting the US Food and Drug Administration (FDA)-approved indications for rhGH therapy and the current evidence surrounding the psychosocial issues of short stature in children. (ajmc.com)
- Obesity, on the other end of the spectrum, is also associated with short and long term physical and psychosocial complications, ranging from increased risk for cardio-metabolic diseases to lower self esteem and educational attainment, as well as higher unemployment rates [ 12 , 13 ]. (biomedcentral.com)
Risk Factors1
- Our study identified the diagnostic characteristics of NGS in short stature with different risk factors. (endocrine.org)
Presentation1
- Nulliparity, previous cesarean delivery, short stature, overweight, gestational age, occiput posterior presentation and birthweight were all independently associated with hypoxic ischemic encephalopathy. (nih.gov)
Height3
- Type I is mild and nondeforming with normal height or short stature, blue sclera, and no dentinogenesis imperfecta (DI). (orpha.net)
- Fig.1This means the majority of the individuals of the population are closer to the mean average height (peak of the curve) and progressively fewer numbers of individuals have shorter or taller (deviation) height than that average height. (athensbjr.com)
- Short stature is any height below - 2SD. (athensbjr.com)
Overweight2
- This study aimed to investigate, on a national level, the prevalence of short stature (SS), underweight, overweight, and obesity among school aged children in Jordan. (biomedcentral.com)
- The combination of maternal short stature and overweight was associated with a more than threefold risk of subsequent hypoxic ischemic encephalopathy. (nih.gov)
Asymptomatic1
- Low incidence of pathology detection and high cost of screening in the evaluation of asymptomatic short children[J]. J Pediatr, 2013, 163(4):1045-1051. (magtech.com.cn)
Individual's1
- Their danger is further accentuated by the myriad of detrimental effects they have on the individual's well being on the short and long run. (biomedcentral.com)
Dysplasia1
- Spondylocostal dysplasia (SCD) is a rare costovertebral malformation characterised by short-trunk short stature. (gronbach.us)
Unknown3
- The prevalence of short stature (SS) and underweight in Jordan on a national level is unknown. (biomedcentral.com)
- The etiology remains unknown. (biomedcentral.com)
- The etiology of IH is unknown. (longdom.org)
Children2
- Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. (nih.gov)
- For example, young children exhibit hand to mouth behaviors and their shorter stature often puts them closer to the ground where toxic substances can concentrate. (cdc.gov)