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Auriculocondylar syndrome

Disease definition

Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

ORPHA:137888

  • 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: -

Additional information

Further information on this disease

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