Table 4.

Features of X-Linked Otopalatodigital Spectrum Disorders

DisorderFeatures% of Persons with Feature
OPD1 in males Digital anomalies100%
Deafness100%
Mild limb bowingUnknown
Cleft Palate75%
OPD2 in males Thoracic hypoplasia100%
Cleft palate80%
FMD1 in males Supraorbital hyperostosis100%
Urinary Tract obstructionUnknown
MNS in females Micrognathia100%
Limb bowing100%
Short stature100%
Thoracic hypoplasia100%
TODPD in females Digital fibromata100%
Erosive changes on radiographs100%
Limb bowingUnknown

FMD1 = frontometaphyseal dysplasia type 1; MNS = Melnick-Needles syndrome; OPD1 = otopalatodigital syndrome type 1; OPD2 = otopalatodigital syndrome type 2; TODPD = terminal osseous dysplasia with pigmentary skin defects

From: X-Linked Otopalatodigital Spectrum Disorders

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.