Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review
ABSTRACT Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is typically diagnosed later than conge...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Oxford University Press
2023-05-01
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| Series: | JBMR Plus |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/jbm4.10728 |
| _version_ | 1827164617599614976 |
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| author | Craig F Munns Edward P Maguire Angela Williams Sue Wood Andrew Biggin |
| author_facet | Craig F Munns Edward P Maguire Angela Williams Sue Wood Andrew Biggin |
| author_sort | Craig F Munns |
| collection | DOAJ |
| description | ABSTRACT Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate‐wasting disorder characterized by loss of function of the phosphate‐regulating endopeptidase homologue, X‐linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23. This targeted literature review of 38 articles seeks to provide an overview of craniosynostosis in individuals with XLH. The objectives of this review are to increase awareness of the prevalence, presentation, and diagnosis of craniosynostosis in XLH; examine the spectrum of craniosynostosis severity in XLH; discuss the management of craniosynostosis in those with XLH; recognize the complications for patients with XLH; and identify what is known about the burden of craniosynostosis for individuals with XLH. The presentation of craniosynostosis in individuals with XLH tends to manifest slightly later than congenital craniosynostosis and can vary in severity and appearance, making diagnosis difficult and resulting in inconsistent clinical outcomes. Consequently, craniosynostosis in patients with XLH is an underreported and potentially underrecognized condition. There have been no studies investigating the effects of craniosynostosis on the quality of life of people with XLH. Despite a growing awareness among researchers and experienced clinicians, there are still improvements to be made in general awareness and timely diagnosis of craniosynostosis in XLH. The XLH community would benefit from further study into the prevalence of craniosynostosis, the effect of XLH medical therapy on the development of craniosynostosis, and the effects of craniosynostosis on quality of life. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research. |
| first_indexed | 2024-04-09T12:37:17Z |
| format | Article |
| id | doaj.art-269c6542803a4f77bfc170c8d695fe4c |
| institution | Directory Open Access Journal |
| issn | 2473-4039 |
| language | English |
| last_indexed | 2025-03-21T01:19:27Z |
| publishDate | 2023-05-01 |
| publisher | Oxford University Press |
| record_format | Article |
| series | JBMR Plus |
| spelling | doaj.art-269c6542803a4f77bfc170c8d695fe4c2024-08-03T02:24:28ZengOxford University PressJBMR Plus2473-40392023-05-0175n/an/a10.1002/jbm4.10728Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A ReviewCraig F Munns0Edward P Maguire1Angela Williams2Sue Wood3Andrew Biggin4Mayne Academy of Paediatrics University of Queensland Brisbane Australia90TEN London UKKyowa Kirin International Marlow UKKyowa Kirin International Marlow UKDiscipline of Child and Adolescent Health University of Sydney Sydney AustraliaABSTRACT Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X‐linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate‐wasting disorder characterized by loss of function of the phosphate‐regulating endopeptidase homologue, X‐linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23. This targeted literature review of 38 articles seeks to provide an overview of craniosynostosis in individuals with XLH. The objectives of this review are to increase awareness of the prevalence, presentation, and diagnosis of craniosynostosis in XLH; examine the spectrum of craniosynostosis severity in XLH; discuss the management of craniosynostosis in those with XLH; recognize the complications for patients with XLH; and identify what is known about the burden of craniosynostosis for individuals with XLH. The presentation of craniosynostosis in individuals with XLH tends to manifest slightly later than congenital craniosynostosis and can vary in severity and appearance, making diagnosis difficult and resulting in inconsistent clinical outcomes. Consequently, craniosynostosis in patients with XLH is an underreported and potentially underrecognized condition. There have been no studies investigating the effects of craniosynostosis on the quality of life of people with XLH. Despite a growing awareness among researchers and experienced clinicians, there are still improvements to be made in general awareness and timely diagnosis of craniosynostosis in XLH. The XLH community would benefit from further study into the prevalence of craniosynostosis, the effect of XLH medical therapy on the development of craniosynostosis, and the effects of craniosynostosis on quality of life. © 2023 The Authors. JBMR Plus published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.https://doi.org/10.1002/jbm4.10728CRANIOSYNOSTOSISFIBROBLAST GROWTH FACTOR 23PHOSPHATESCAPHOCEPHALYX‐LINKED HYPOPHOSPHATEMIA |
| spellingShingle | Craig F Munns Edward P Maguire Angela Williams Sue Wood Andrew Biggin Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review JBMR Plus CRANIOSYNOSTOSIS FIBROBLAST GROWTH FACTOR 23 PHOSPHATE SCAPHOCEPHALY X‐LINKED HYPOPHOSPHATEMIA |
| title | Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review |
| title_full | Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review |
| title_fullStr | Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review |
| title_full_unstemmed | Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review |
| title_short | Craniosynostosis in Patients With X‐Linked Hypophosphatemia: A Review |
| title_sort | craniosynostosis in patients with x linked hypophosphatemia a review |
| topic | CRANIOSYNOSTOSIS FIBROBLAST GROWTH FACTOR 23 PHOSPHATE SCAPHOCEPHALY X‐LINKED HYPOPHOSPHATEMIA |
| url | https://doi.org/10.1002/jbm4.10728 |
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