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Auriculocondylar syndrome

Orpha number ORPHA137888
Synonym(s) Question mark ear syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10
  • Q75.8
ICD-O -
OMIM
UMLS
  • C1865295
MeSH
  • C538270
MedDRA -

Summary

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. It is transmitted in an autosomal dominant manner.


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