Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds

Andrea L. Storm, Jason M. Johnson, Edward Lammer, Glenn E. Green, Christopher Cunniff

Research output: Contribution to journalArticle

21 Scopus citations

Abstract

We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.

Original languageEnglish (US)
Pages (from-to)141-145
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume138 A
Issue number2
DOIs
StatePublished - Oct 1 2005

Keywords

  • Auriculo-condylar syndrome
  • Congenital auricular cleft
  • Ear malformation
  • Mandibular condyle hypoplasia
  • Micrognathia
  • Microstomia
  • Question mark ear
  • Temporomandibular joint abnormality

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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