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Auriculocondylar syndrome 3(ARCND3)

MedGen UID:
816662
Concept ID:
C3810332
Disease or Syndrome
Synonym: ARCND3
 
Gene (location): EDN1 (6p24.1)
 
Monarch Initiative: MONDO:0014312
OMIM®: 615706

Definition

Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). [from OMIM]

Clinical features

From HPO
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
An abnormal narrowing of the external auditory canal.
Bilateral conductive hearing impairment
MedGen UID:
99093
Concept ID:
C0452136
Disease or Syndrome
A bilateral type of conductive hearing impairment.
Question mark ear
MedGen UID:
854772
Concept ID:
C3888103
Finding
Cleft between the helix and the lobe.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Laryngeal cleft
MedGen UID:
327075
Concept ID:
C1840311
Congenital Abnormality
Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esophagus.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Glossoptosis
MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome
Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.
Full cheeks
MedGen UID:
355661
Concept ID:
C1866231
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Forsander G, Stallknecht S, Samuelsson U, Marcus C, Bøgelund M
Diabet Med 2018 May;35(5):621-629. Epub 2018 Feb 27 doi: 10.1111/dme.13592. PMID: 29381816

Recent clinical studies

Therapy

Forsander G, Stallknecht S, Samuelsson U, Marcus C, Bøgelund M
Diabet Med 2018 May;35(5):621-629. Epub 2018 Feb 27 doi: 10.1111/dme.13592. PMID: 29381816

Prognosis

Shi Y, Rong L, Liu S, Liu Y, Zong C, Lu J, Shang H, Xue Y, Tian L
BMC Oral Health 2024 Jul 16;24(1):803. doi: 10.1186/s12903-024-04575-1. PMID: 39014351Free PMC Article
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR
Eur J Hum Genet 2015 Apr;23(4):481-5. Epub 2014 Jul 16 doi: 10.1038/ejhg.2014.132. PMID: 25026904Free PMC Article
Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
Am J Hum Genet 2013 Dec 5;93(6):1118-25. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.023. PMID: 24268655Free PMC Article
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J
J Med Genet 2013 Mar;50(3):174-86. Epub 2013 Jan 12 doi: 10.1136/jmedgenet-2012-101331. PMID: 23315542

Clinical prediction guides

Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G
Am J Med Genet A 2016 Jun;170(6):1471-8. Epub 2016 Mar 23 doi: 10.1002/ajmg.a.37625. PMID: 27007857
Abu Taha A, Abu-Zaydeh AH, Ardah RA, Al-Jabi SW, Sweileh WM, Awang R, Zyoud SH
Zoonoses Public Health 2016 Sep;63(6):449-57. Epub 2016 Jan 11 doi: 10.1111/zph.12249. PMID: 26752329
Romanelli Tavares VL, Gordon CT, Zechi-Ceide RM, Kokitsu-Nakata NM, Voisin N, Tan TY, Heggie AA, Vendramini-Pittoli S, Propst EJ, Papsin BC, Torres TT, Buermans H, Capelo LP, den Dunnen JT, Guion-Almeida ML, Lyonnet S, Amiel J, Passos-Bueno MR
Eur J Hum Genet 2015 Apr;23(4):481-5. Epub 2014 Jul 16 doi: 10.1038/ejhg.2014.132. PMID: 25026904Free PMC Article
Gordon CT, Vuillot A, Marlin S, Gerkes E, Henderson A, AlKindy A, Holder-Espinasse M, Park SS, Omarjee A, Sanchis-Borja M, Bdira EB, Oufadem M, Sikkema-Raddatz B, Stewart A, Palmer R, McGowan R, Petit F, Delobel B, Speicher MR, Aurora P, Kilner D, Pellerin P, Simon M, Bonnefont JP, Tobias ES, García-Miñaúr S, Bitner-Glindzicz M, Lindholm P, Meijer BA, Abadie V, Denoyelle F, Vazquez MP, Rotky-Fast C, Couloigner V, Pierrot S, Manach Y, Breton S, Hendriks YM, Munnich A, Jakobsen L, Kroisel P, Lin A, Kaban LB, Basel-Vanagaite L, Wilson L, Cunningham ML, Lyonnet S, Amiel J
J Med Genet 2013 Mar;50(3):174-86. Epub 2013 Jan 12 doi: 10.1136/jmedgenet-2012-101331. PMID: 23315542
Masotti C, Oliveira KG, Poerner F, Splendore A, Souza J, Freitas Rda S, Zechi-Ceide R, Guion-Almeida ML, Passos-Bueno MR
Eur J Hum Genet 2008 Feb;16(2):145-52. Epub 2007 Nov 14 doi: 10.1038/sj.ejhg.5201955. PMID: 18000524

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