Robin sequence-oligodactyly syndrome
Synonyms: Pierre Robin sequence-oligodactyly syndrome
Robin sequence-oligodactyly syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly absent phalanx metacarpal fusions and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
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 October 2023.
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