EVEN-plus syndrome

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EVEN-plus syndrome

Synonyms: Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip triangular nares or anteverted nares). Additional variable findings include short stature localized aplasia cutis hypodontia synophrys agenesis of the corpus callosum and cardiac gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.

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 September 2023.

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EVEN-plus syndrome?

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