Cleft palate-short stature-vertebral anomalies syndrome
Synonyms: Mathieu-De Broca-Bony syndrome
A rare genetic multiple congenital anomalies syndrome characterized by the association of cleft palate peculiar facies (asymmetrical appearance inner epicanthal folds short nose anteverted nostrils low and back-oriented ears thin upper lip and micrognathism) short stature short neck vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.
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 September 2023.
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Cleft palate-short stature-vertebral anomalies syndrome?
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