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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Syndromes Without A Name (SWAN) Australia
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