Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes
Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the s...
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Editorial Office of Medical Journal of Peking Union Medical College Hospital
2024-11-01
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| Series: | Xiehe Yixue Zazhi |
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| Online Access: | https://xhyxzz.pumch.cn/article/doi/10.12290/xhyxzz.2024-0173 |
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| author | XU Kexin LI Guozhuang WU Zhihong ZHANG Jianguo DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group WU Nan |
| author_facet | XU Kexin LI Guozhuang WU Zhihong ZHANG Jianguo DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group WU Nan |
| author_sort | XU Kexin |
| collection | DOAJ |
| description | Ehlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the same age, sex, and race. The etiopathogenesis of short stature is complicated. Early detection and appropriate intervention are essential in disease treatment. However, short stature is not common among all EDS subtypes. It is frequently observed in patients with rare subtypes, such as spondylodysplastic EDS, dermatosparaxis EDS, and musculo-contractural EDS. Besides, height may be affected by other factors including spinal curvature and malnutrition. Deep phenotyping and multidisciplinary team approaches are recommended for the diagnosis and management. Short stature in patients with EDS has not been sufficiently acknowledged in China. There is currently a lack of high-level evidence for the treatment of EDS-related short stature. Therefore, this review aims to present recent progress of diagnosis and management of short stature in patients with EDS. Further studies focusing on short stature in rare subtypes are necessary to advance precision medicine and enhance patient care. |
| format | Article |
| id | doaj-art-15ce09567e304e34ab2a865012046d70 |
| institution | Kabale University |
| issn | 1674-9081 |
| language | zho |
| publishDate | 2024-11-01 |
| publisher | Editorial Office of Medical Journal of Peking Union Medical College Hospital |
| record_format | Article |
| series | Xiehe Yixue Zazhi |
| spelling | doaj-art-15ce09567e304e34ab2a865012046d702025-02-08T07:47:34ZzhoEditorial Office of Medical Journal of Peking Union Medical College HospitalXiehe Yixue Zazhi1674-90812024-11-0116116317010.12290/xhyxzz.2024-0173Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos SyndromesXU KexinLI GuozhuangWU ZhihongZHANG JianguoDISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group0WU NanDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaEhlers-Danlos syndromes (EDS) are a group of rare hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Short stature is defined as a height that is two standard deviations or more below the average height for individuals of the same age, sex, and race. The etiopathogenesis of short stature is complicated. Early detection and appropriate intervention are essential in disease treatment. However, short stature is not common among all EDS subtypes. It is frequently observed in patients with rare subtypes, such as spondylodysplastic EDS, dermatosparaxis EDS, and musculo-contractural EDS. Besides, height may be affected by other factors including spinal curvature and malnutrition. Deep phenotyping and multidisciplinary team approaches are recommended for the diagnosis and management. Short stature in patients with EDS has not been sufficiently acknowledged in China. There is currently a lack of high-level evidence for the treatment of EDS-related short stature. Therefore, this review aims to present recent progress of diagnosis and management of short stature in patients with EDS. Further studies focusing on short stature in rare subtypes are necessary to advance precision medicine and enhance patient care.https://xhyxzz.pumch.cn/article/doi/10.12290/xhyxzz.2024-0173ehlers-danlos syndromesshort staturemulti-disciplinary treatmentdeep phenotypingrare disease |
| spellingShingle | XU Kexin LI Guozhuang WU Zhihong ZHANG Jianguo DISCO(Deciphering Disorders Involving Scoliosis & Comorbidities) Study Group WU Nan Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes Xiehe Yixue Zazhi ehlers-danlos syndromes short stature multi-disciplinary treatment deep phenotyping rare disease |
| title | Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes |
| title_full | Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes |
| title_fullStr | Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes |
| title_full_unstemmed | Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes |
| title_short | Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes |
| title_sort | progress in clinical diagnosis and management of short stature in ehlers danlos syndromes |
| topic | ehlers-danlos syndromes short stature multi-disciplinary treatment deep phenotyping rare disease |
| url | https://xhyxzz.pumch.cn/article/doi/10.12290/xhyxzz.2024-0173 |
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