Microphthalmia-microtia-fetal akinesia syndrome

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Synonyms: Thomas-Jewett-Raines syndrome

A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence bilateral microphthalmia microtia and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead small nose micrognathia as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.

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 June 2024

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Advocacy Organizations

ZC4H2 Research Foundation

Our Mission: The purpose of the ZC4H2 Research Foundation is to support the development of viable therapies and standards of clinical care for the treatment of ZC4H2 Associated Rare Disorders (ZARD), and to be an information and support network for the ZARD community. We advocate through research, awareness, and support. For more information, please visit https://www.zc4h2foundation.org.

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Clinical Trials

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