Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

Kexin XU; Guozhuang LI; Zhihong WU; Jianguo ZHANG; Nan WU

Medical Journal of Peking Union Medical College Hospital 2024;16(1):163-170

doi:10.12290/xhyxzz.2024-0173

Progress in Clinical Diagnosis and Management of Short Stature in Ehlers-Danlos Syndromes

Kexin XU ¹ ; Guozhuang LI ¹ ; Zhihong WU ² ; Jianguo ZHANG ³ ; Nan WU ³

Affiliations

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1. Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;

2. Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Medical Science Research Center (MRC), Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;

3. Department of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Beijing Key Laboratory of Big Data Innovation and Application for Skeletal Health Medical Care, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Key Laboratory of Big Data for Spinal Deformities, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;

Keywords

Ehlers-Danlos syndromes; short stature; multi-disciplinary treatment; deep phenotyping; rare disease

Country

China

Language

Chinese

Abstract

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.

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