Orphanet: Auriculocondylar syndrome
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Auriculocondylar syndrome

Disease definition

A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.

ORPHA:137888

Classification level: Disorder
  • Synonym(s):
    • Question mark ear syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q75.8
  • OMIM: 602483  612798  614669  615706
  • UMLS: C1865295
  • MeSH: C538270
  • GARD: 9798
  • MedDRA: -
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