Details of Disease

General Information of Disease (ID: DISW3W1P)

• Disease Name: Auriculocondylar syndrome
• Synonyms: question-mark ear syndrome; question mark ear; ears prominent and constricted; dysgnathia complex; question mark ear syndrome; auriculo-condylar syndrome
• 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.
• Disease Hierarchy:
  DISVJGPS: Ear malformation
  DISW3W1P: Auriculocondylar syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0000107
  MESH ID: C538270
  UMLS CUI: C1865295
  MedGen ID: 355953
  Orphanet ID: 137888
  SNOMED CT ID: 702443003

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EDN1	TTJR60Z	Supportive	Autosomal dominant	[1]
EDN1	TTJR60Z	moderate	Biomarker	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EDN1	OTZCACEG	Supportive	Autosomal dominant	[1]
GNAI3	OT89UWAR	Supportive	Autosomal dominant	[3]
PLCB4	OTPA0QHW	Supportive	Autosomal dominant	[3]

References

• [1] Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. Am J Hum Genet. 2013 Dec 5;93(6):1118-25. doi: 10.1016/j.ajhg.2013.10.023. Epub 2013 Nov 21.
• [2] Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.Am J Med Genet A. 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101.
• [3] A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002.