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Synotia

MedGen UID:: 451028
•Concept ID:: C0266677
•: Congenital Abnormality

Synonym:	Synotus
SNOMED CT:	Synotus (77471004); Synotia (77471004)

HPO:	HP:0100663

Definition

A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSynotia

Phenotypic abnormality
- Ear malformation
  - Abnormal ear morphology
    - Abnormality of the outer ear
      - Abnormal pinna morphology
        Abnormal location of ears
        Synotia

Conditions with this feature

Agnathia-otocephaly complex

MedGen UID:: 78541
•Concept ID:: C0265242
•: Congenital Abnormality

Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

See: Condition Record

Agnathia-otocephaly complex

Recent clinical studies

Etiology

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.

Suemitsu T, Takesawa A, Hosokawa M, Mitani T, Kadooka M, Furusawa Y, Kawataki M, Dohi S
Am J Case Rep 2023 May 11;24:e939016. doi: 10.12659/AJCR.939016. PMID: 37165610 Free PMC Article

First-Trimester Diagnosis of Agnathia-Otocephaly Complex: A Series of 4 Cases and Review of the Literature.

Rodriguez N, Casasbuenas A, Andreeva E, Odegova N, Wong AE, Sepulveda W
J Ultrasound Med 2019 Mar;38(3):805-809. Epub 2018 Aug 31 doi: 10.1002/jum.14759. PMID: 30171631

Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood.

Golinko MS, Shetye P, Flores RL, Staffenberg DA
J Craniofac Surg 2015 Nov;26(8):2387-92. doi: 10.1097/SCS.0000000000002150. PMID: 26517463

See all (3)

Diagnosis

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.

Suemitsu T, Takesawa A, Hosokawa M, Mitani T, Kadooka M, Furusawa Y, Kawataki M, Dohi S
Am J Case Rep 2023 May 11;24:e939016. doi: 10.12659/AJCR.939016. PMID: 37165610 Free PMC Article

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging.

Kinkel J, Rduch T, Abgottspon D, Fischer T
BMJ Case Rep 2022 Apr 22;15(4) doi: 10.1136/bcr-2022-249276. PMID: 35459654 Free PMC Article

Re-focusing on Agnathia-Otocephaly complex.

Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J
Clin Oral Investig 2021 Mar;25(3):1353-1362. Epub 2020 Jul 9 doi: 10.1007/s00784-020-03443-w. PMID: 32643087

Otocephaly.

Hwang KS, Ding DC, Chang YK, Chen WH, Chu TY
J Chin Med Assoc 2007 Jul;70(7):298-301. doi: 10.1016/S1726-4901(07)70009-6. PMID: 17631468

Sonographic findings in otocephaly (synotia).

Cayea PD, Bieber FR, Ross MJ, Davidoff A, Osathanondh R, Jones TB
J Ultrasound Med 1985 Jul;4(7):377-9. doi: 10.7863/jum.1985.4.7.377. PMID: 3925160

See all (14)

Prognosis

Isolated Agnathia-Otocephaly Complex Diagnosed Prenatally for Ex-Utero Intrapartum Treatment: A Case Report.

Suemitsu T, Takesawa A, Hosokawa M, Mitani T, Kadooka M, Furusawa Y, Kawataki M, Dohi S
Am J Case Rep 2023 May 11;24:e939016. doi: 10.12659/AJCR.939016. PMID: 37165610 Free PMC Article

Advances in prenatal diagnosis of fetal otocephaly by 3D imaging.

Kinkel J, Rduch T, Abgottspon D, Fischer T
BMJ Case Rep 2022 Apr 22;15(4) doi: 10.1136/bcr-2022-249276. PMID: 35459654 Free PMC Article

Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature.

Ţarcă E, Plămădeală P, Savu B
Rom J Morphol Embryol 2014;55(1):209-13. PMID: 24715190

Dysgnathia complex sine holoprosencephaly nor synotia: a case report and discussion of its nosology.

Corona-Rivera JR, Trujillo-Ponce SA, Barrios-Prieto E, Quiles-Corona M, Miguel-Jimenez K, Aguirre-Guillen RL, Bobadilla-Morales L, Corona-Rivera A
Genet Couns 2013;24(1):45-55. PMID: 23610864

Agnathia-synotia-microstomia (otocephaly): a case report in an African woman.

Mujuru HA, Marume A, Shumbairerwa S, Ndhlovu A
Cent Afr J Med 2010 Sep-Dec;56(9-12):66-9. PMID: 23457854

See all (6)

Clinical prediction guides

Human anotocephaly (aprosopus, acrania-synotia) in the Vilnius anatomical collection.

Utkus A, Kazakevicius R, Ptasekas R, Kucinskas V, Beckwith JB, Opitz JM
Am J Med Genet 2001 Jun 15;101(2):163-71. doi: 10.1002/ajmg.1320. PMID: 11391661

Cyclopia-synotia: an unusual presentation.

Kramer B, Stein BA, Grace HJ
J Craniofac Genet Dev Biol 1989;9(3):231-8. PMID: 2613857

Monozygotic twin aborted fetuses discordant for holoprosencephaly/synotia.

Machin GA, Sperber GH, Wootliffe J
Teratology 1985 Apr;31(2):203-15. doi: 10.1002/tera.1420310205. PMID: 3992489

In utero diagnosis of agnathia, microstomia, and synotia.

Scholl HW Jr
Obstet Gynecol 1977 Jan;49(1 suppl):81-3. PMID: 318738

See all (4)