Microphthalmia-microtia-fetal akinesia syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version November 2023
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Microphthalmia-microtia-fetal akinesia syndrome?
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