Otoonychoperoneal syndrome

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A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of dysplastic external ears nail hypoplasia and variable skeletal malformations such as hypoplastic or absent fibulae abnormalities of the scapula clavicle and acromioclavicular joint and talipes equinovarus among others. Joint contractures and mild facial dysmorphism 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 July 2024

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Otoonychoperoneal syndrome?

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Clinical Trials

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