Table 5.

Treatment of Manifestations in Individuals with SLC25A24 Fontaine Progeroid Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Craniosynostosis /
Underossified
skull 		Mgmt in multidisciplinary craniofacial clinic is recommended.
  • W/ossification of skull, craniosynostosis may become apparent.
  • Protective helmet may be considered w/delayed ossification.
Pulmonary
hypertension 		Multidisciplinary care w/providers familiar w/mgmt of pulmonary hypertension
  • Mgmt of microaspiration & oxygen therapy help.
  • Consider sleep study (particularly in persons w/midfacial retrusion).
Aortic
dilatation 		Tertiary cardiovascular care
  • Aneurysm w/dissection has been reported at aortic root & not elsewhere in arterial tree.
  • Dissection may occur at smaller aortic diameters.
Hearing loss Per treating ENT/audiologistMyringotomy tubes if persistent middle ear effusions are present
Umbilical hernia Surgical repair if persistent
Developmental
delay 		See Developmental Delay Management Issues.Cognition is typically in normal range despite early delay in acquisition of milestones.

From: SLC25A24 Fontaine Progeroid Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.