{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:34:43Z","timestamp":1760146483708,"version":"build-2065373602"},"reference-count":22,"publisher":"MDPI AG","issue":"22","license":[{"start":{"date-parts":[[2024,11,9]],"date-time":"2024-11-09T00:00:00Z","timestamp":1731110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objectives: X-linked hypophosphatemia (XLH, OMIM 307800) is a rare genetic disorder that affects phosphate metabolism. While lower limb deformity represents a hallmark symptom of patients with XLH, the effect on the foot has not been investigated. This study aimed to characterise foot pathologies and assess related outcome scores in adolescents and adults with XLH. Methods: Patients aged \u2265 16 years with genetically verified XLH were included in this study. Physical examination was performed, and foot scores as well as foot X-rays were assessed. Radiographic analysis included the assessment of osteoarthritis, enthesopathies, and alignment abnormalities. Results: Twenty-six participants (51 limbs) with a mean age of 33.9 \u00b1 15.4 years were eligible for the study. Patients with XLH presented with flatfoot deformity (reduced Meary angles &gt; \u22124\u00b0 in 84.3%), elevated first and fifth metatarsal angles &gt; 30\u00b0 (IM 1\u20135, 53.5%) and hallux valgus angles &gt; 15\u00b0 (36.0%). Moderate-to-severe joint space narrowing was observed in the talonavicular (49%) and cuneonavicular joints (41.2%). The American Orthopedic Foot and Ankle Society (AOFAS) score was associated with mildly reduced midfoot function. Conclusions: A high rate of bony deformity, joint degeneration, and decreased foot scores indicated the impact of forefoot and midfoot disorders in patients with XLH.<\/jats:p>","DOI":"10.3390\/jcm13226749","type":"journal-article","created":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T11:34:11Z","timestamp":1731324851000},"page":"6749","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Midfoot and Forefoot Disorders in Adolescents and Adults with X-Linked Hypophosphatemia"],"prefix":"10.3390","volume":"13","author":[{"given":"Florian","family":"Wenzel-Schwarz","sequence":"first","affiliation":[{"name":"Department of Pediatric Orthopaedics and Foot Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130 Vienna, Austria"},{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celine C.","family":"Akta","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics and Foot Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130 Vienna, Austria"},{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0620-0893","authenticated-orcid":false,"given":"Alexandra","family":"Stauffer","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics and Foot Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130 Vienna, Austria"},{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3551-594X","authenticated-orcid":false,"given":"Adalbert","family":"Raimann","sequence":"additional","affiliation":[{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"},{"name":"Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Medical University of Vienna, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2618-1546","authenticated-orcid":false,"given":"Roland","family":"Kocijan","sequence":"additional","affiliation":[{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"},{"name":"Medical Faculty of Bone Diseases, Sigmund Freud University, Freudplatz 1, 1020 Vienna, Austria"},{"name":"Ludwig Boltzmann Institute of Osteology at Hanusch Hospital of OEGK and AUVA, Trauma Centre Meidling, 1st Medical Department Hanusch Hospital, Heinrich-Collin-Stra\u00dfe 30, 1140 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Ganger","sequence":"additional","affiliation":[{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8533-2164","authenticated-orcid":false,"given":"Gabriel T.","family":"Mindler","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopaedics and Foot Surgery, Orthopaedic Hospital Speising, Speisinger Strasse 109, 1130 Vienna, Austria"},{"name":"Vienna Bone and Growth Center, W\u00e4hringer G\u00fcrtel 18\u201320, 1090 Vienna, Austria"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,11,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1038\/s41574-022-00662-x","article-title":"Interdisciplinary management of FGF23-related phosphate wasting syndromes: A consensus statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia","volume":"18","author":"Trombetti","year":"2022","journal-title":"Nat. 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