Citation, DOI, disclosures and article data
Citation:
Prabhu S, Knipe H, Luong D, et al. Otopalatodigital syndrome type I. Reference article, Radiopaedia.org (Accessed on 21 Feb 2025) https://doi.org/10.53347/rID-23291
Disclosures:
At the time the article was last revised Henry Knipe had the following disclosures:
- Integral Diagnostics, Shareholder (ongoing)
- Micro-X Ltd, Shareholder (ongoing)
These were assessed during peer review and were determined to
not be relevant to the changes that were made.
View Henry Knipe's current disclosures
Otopalatodigital syndrome type I is a rare genetic disorder characterized by:
skeletal dysplasia
hearing loss
cleft palate
characteristic face: hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and down-slanted palpebral fissures)
It is a member of a group of related conditions called otopalatodigital spectrum disorders that also include:
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1. Robertson S. Otopalatodigital Syndrome Spectrum Disorders: Otopalatodigital Syndrome Types 1 and 2, Frontometaphyseal Dysplasia and Melnick-Needles Syndrome. Eur J Hum Genet. 2007;15(1):3-9. doi:10.1038/sj.ejhg.5201654 - Pubmed
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