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Auriculocondylar syndrome

Synonym(s) Question mark ear syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
Age of onset Infancy
  • Q75.8
  • C1865295
  • C538270
MedDRA -


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.


So far, ACS has been reported in six multigenerational families.


This condition can be classified as a disease of the first and second embryonic pharyngeal arches and is characterized by significant intra- and interfamilial phenotypic variation.

Genetic counseling

It is transmitted in an autosomal dominant manner.

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