Orofaciodigital syndrome type 10

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Synonyms: Figuera syndrome | OFD10 | Oral-facial-digital syndrome type 10 | Orofaciodigital syndrome with fibular aplasia

A rare multiple congenital anomalies syndrome characterized by facial (telecanthus flat nasal bridge retrognathia) oral (cleft palate vestibular frenula) and digital (oligodactyly preaxial polydactyly) features associated with remarkable radial shortening fibular agenesis and coalescence of tarsal bones. No new cases have been described since 1993.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Orofaciodigital syndrome type 10?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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