Table 4.

Genes of Interest in the Differential Diagnosis of Osteoglophonic Dysplasia

GeneDisorderMOIClinical Features of Disorder
Overlapping w/OGDDistinguishing from OGD
FGFR2 (FGFR1) 1Pfeiffer syndrome (See FGFR Craniosynostosis Syndromes Overview.)AD
  • Multisuture craniosynostosis
  • Moderate-to-severe midface retrusion
  • Proptosis
  • Airway obstruction
  • Dental crowding
  • Less pronounced short stature
  • Broad thumbs & great toes
  • Medially deviated thumbs & great toes
  • CHL
FGFR2 Apert syndrome AD
  • Multisuture craniosynostosis
  • Moderate-to-severe midface retrusion
  • Proptosis
  • Dental anomalies
  • Airway obstruction
  • Soft tissue & bony syndactyly ± polydactyly of fingers & toes
  • Synonychia
  • Cleft palate
  • CHL
Crouzon syndrome (See FGFR Craniosynostosis Syndromes Overview.)AD
  • Multisuture craniosynostosis
  • Moderate-to-severe midface retrusion
  • Proptosis
  • Airway obstruction
  • CHL & SNHL
  • Normal hands & feet
Jackson-Weiss syndrome (See FGFR Craniosynostosis Syndromes Overview.)AD
  • Multisuture craniosynostosis
  • Proptosis
  • Airway obstruction
  • Broad & medially deviated great toes
  • 2/3 toe syndactyly
NF1 Neurofibromatosis 1 AD
  • Non-ossifying fibromas
  • Pseudoarthrosis
  • Giant cell granulomas of the jaw
  • Intellectual & learning disabilities
  • Café au lait macules
  • Above average head circumference for age
  • Optic glioma
  • Neurofibroma

AD = autosomal dominant; CHL = conductive hearing loss; MOI = mode of inheritance; OGD = osteoglophonic dysplasia; SNHL = sensorineural hearing loss

1.

FGFR2 pathogenic variants are identified in >95% of individuals with Pfeiffer syndrome and FGFR1 pathogenic variants are identified in <5% of individuals with Pfeiffer syndrome. An FGFR3 pathogenic variant was identified in one individual with Pfeiffer syndrome (see FGFR Craniosynostosis Syndromes Overview).

From: Osteoglophonic Dysplasia

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.