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EVEN-plus syndrome

Disease definition

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.

ORPHA:496751

Classification level: Disorder
  • Synonym(s):
    • Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal
  • ICD-10: -
  • OMIM: 616854
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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