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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.
See: Feature record | Search on this feature
Bilateral conductive hearing impairment
MedGen UID:
99093
•Concept ID:
C0452136
•
Disease or Syndrome
A bilateral type of conductive hearing impairment.
See: Feature record | Search on this feature
Question mark ear
MedGen UID:
854772
•Concept ID:
C3888103
•
Finding
Cleft between the helix and the lobe.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Retrognathia
MedGen UID:
19766
•Concept ID:
C0035353
•
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Ectropion
MedGen UID:
4448
•Concept ID:
C0013592
•
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Full cheeks
MedGen UID:
355661
•Concept ID:
C1866231
•
Finding
Increased prominence or roundness of soft tissues between zygomata and mandible.
See: Feature record | Search on this feature
Bifid uvula
MedGen UID:
1646931
•Concept ID:
C4551488
•
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Preferences for treatment among adolescents with Type 1 diabetes: a national study using a discrete choice experiment model.
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

Etiology

Preferences for treatment among adolescents with Type 1 diabetes: a national study using a discrete choice experiment model.
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
Public Knowledge and Attitudes Regarding the Use of Antibiotics and Resistance: Findings from a Cross-Sectional Study Among Palestinian Adults.
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

Diagnosis

Bilateral choanal stenosis in auriculocondylar syndrome caused by a PLCB4 variant.
Peart LS, Gonzalez J, Bivona S, Latchman K, Torres L; Undiagnosed Diagnosis Network, Tekin M
Am J Med Genet A 2022 Apr;188(4):1307-1310. Epub 2022 Jan 7 doi: 10.1002/ajmg.a.62634. PMID: 34995019
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Romanelli Tavares VL, Zechi-Ceide RM, Bertola DR, Gordon CT, Ferreira SG, Hsia GS, Yamamoto GL, Ezquina SA, Kokitsu-Nakata NM, Vendramini-Pittoli S, Freitas RS, Souza J, Raposo-Amaral CA, Zatz M, Amiel J, Guion-Almeida ML, Passos-Bueno MR
Am J Med Genet A 2017 Apr;173(4):938-945. doi: 10.1002/ajmg.a.38101. PMID: 28328130
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
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
Auriculo-condylar syndrome.
Papagrigorakis MJ, Karamolegou M, Vilos G, Apostolidis C, Karamesinis K, Synodinos PN
Angle Orthod 2012 May;82(3):556-64. Epub 2011 Nov 3 doi: 10.2319/052911-356.1. PMID: 22050072Free PMC Article

Therapy

Preferences for treatment among adolescents with Type 1 diabetes: a national study using a discrete choice experiment model.
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

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
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
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
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

Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
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
Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect.
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
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
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
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
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
Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity.
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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