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Auriculocondylar syndrome 4(ARCND4)

MedGen UID:
1841295
•Concept ID:
C5830659
•
Disease or Syndrome
Synonym: ARCND4
 
Gene (location): HDAC9 (7p21.1)
 
Monarch Initiative: MONDO:0957543
OMIM®: 620457

Definition

Auriculocondylar syndrome-4 (ARCND4) is characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Patients may also experience conductive hearing loss (Masotti et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483). [from OMIM]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
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
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
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
Apnea
MedGen UID:
2009
•Concept ID:
C0003578
•
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
See: Feature record | Search on this feature
Narrow mouth
MedGen UID:
44435
•Concept ID:
C0026034
•
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
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
Facial asymmetry
MedGen UID:
266298
•Concept ID:
C1306710
•
Finding
An abnormal difference between the left and right sides of the face.
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
Cleft palate
MedGen UID:
756015
•Concept ID:
C2981150
•
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
See: Feature record | Search on this feature
Postauricular skin tag
MedGen UID:
870863
•Concept ID:
C4025323
•
Finding
A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear).
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

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
Sibling number and prevalence of allergic disorders in pregnant Japanese women: baseline data from the Kyushu Okinawa Maternal and Child Health Study.
Miyake Y, Tanaka K, Arakawa M
BMC Public Health 2011 Jul 14;11:561. doi: 10.1186/1471-2458-11-561. PMID: 21752304Free PMC Article

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
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X, Sun W, Wang J, Chu G, He R, Zhang B, Zhao Y
BMC Pregnancy Childbirth 2021 Nov 17;21(1):780. doi: 10.1186/s12884-021-04238-x. PMID: 34789173Free PMC Article
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

Therapy

Evaluation of molar teeth and buds in patients submitted to mandible distraction: long-term results.
da Silva Freitas R, Tolazzi ARD, Alonso N, Cruz GAO, Busato L
Plast Reconstr Surg 2008 Apr;121(4):1335-1342. doi: 10.1097/01.prs.0000304444.43168.fa. PMID: 18349653

Prognosis

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z
Mol Genet Genomic Med 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. PMID: 38618928Free PMC Article
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X, Sun W, Wang J, Chu G, He R, Zhang B, Zhao Y
BMC Pregnancy Childbirth 2021 Nov 17;21(1):780. doi: 10.1186/s12884-021-04238-x. PMID: 34789173Free PMC Article
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

Auriculocondylar syndrome 2 caused by a novel PLCB4 variant in a male Chinese neonate: A case report and review of the literature.
Zhang Y, Zhao Y, Dai L, Liu Y, Shi Z
Mol Genet Genomic Med 2024 Apr;12(4):e2441. doi: 10.1002/mgg3.2441. PMID: 38618928Free PMC Article
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants.
Kanai SM, Heffner C, Cox TC, Cunningham ML, Perez FA, Bauer AM, Reigan P, Carter C, Murray SA, Clouthier DE
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 29 doi: 10.1242/dmm.049320. PMID: 35284927Free PMC Article
Prenatal diagnosis of auriculocondylar syndrome with a novel missense variant of GNAI3: a case report.
Liu X, Sun W, Wang J, Chu G, He R, Zhang B, Zhao Y
BMC Pregnancy Childbirth 2021 Nov 17;21(1):780. doi: 10.1186/s12884-021-04238-x. PMID: 34789173Free PMC Article
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
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

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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