Clinical features of craniofacial microsomia and overview of the disease

Year 2025, Volume: 11 Issue: 2, 129 - 136, 30.08.2025

Zuhal Mert Altıntaş , Nazan Eras

https://doi.org/10.30569/adiyamansaglik.1683460

Abstract

Aim: Craniofacial microsomia (CFM) is a genetic condition that is autosomal dominant, marked by skeletal and cardiac abnormalities, mandibular hypoplasia, microtia, facial and preauricular tags, and cleft lip. We aimed to investigate the clinical findings of the CFM patient sample in conjunction with the literature.
Materials and Methods: Between 2016 and 2018, 6 patients diagnosed with CFM were retrospectively examined for age, gender, onset time, accompanying diseases, clinical findings, and family history.
Results: In our study, among the 6 patients, 4 were women and 2 were men, with an average diagnosis age of 17.5 months. In five patients, facial asymmetry and ear anomalies (83.3%) and, in four patients (66.6%), microtia were observed. Cardiac anomaly was detected in four patients (66.6%). Fifty percent of the patients had kidney anomalies.
Conclusion: Early diagnosis is important for the appropriate treatment, follow-up, and genetic counseling of affected patients, and a multidisciplinary approach is required for an appropriate treatment plan.

Keywords

Craniofacial microsomia , Ear , Goldenhar syndrome , Hemifacial microsomia , Oculo-auriculo-vertebral spectrum

Ethical Statement

Çalışma Helsinki Bildirgesi'ne uygun olarak yürütüldü. Çalışmaya başlamadan önce Mersin Üniversitesi Klinik Araştırmalar Araştırmalar Etik Kurulu’ndan (Karar No: 2025/322) etik onay alındı.

Supporting Institution

Çalışmayı maddi olarak destekleyen kişi/kuruluş yoktur.

Thanks

Bulunmamaktadır.

Kraniyofasiyal mikrozominin klinik özellikleri ve hastalığa genel bakış

Abstract

Amaç: Kraniyofasiyal mikrozomi (KFM), otozomal dominant, iskelet ve kalp anormallikleri, mandibular hipoplazi, mikroti, fasiyal ve preauriküler tag, ve dudak yarığıyla karakterize genetik bir durumdur. KFM tanılı hastaların klinik bulguları gözden geçirilerek bulgularının literatürden elde edilen verilerle karşılaştırmak amaçlanmıştır.
Gereç ve Yöntem: 2016 ile 2018 yılları arasında KFM tanısı konulan 6 hasta yaş, cinsiyet, başlangıç zamanı, eşlik eden hastalıklar, klinik bulgular ve aile öyküsü açısından retrospektif olarak incelendi.
Bulgular: Çalışmamızda, 6 hastadan 4'ü kadın ve 2'si erkek olup, ortalama tanı yaşı 17,5 aydır. Beş hastada, yüzde asimetri ve kulak anomalisi (%83,3), 4 hastada (%66,6) mikrotia, gözlenmiştir Dört hastada kalpte anomali (%66,6) saptandı. Hastaların %50’sinde böbrek anomalisi vardı.
Sonuç: Erken tanı, etkilenen hastaların uygun tedavisi, takibi ve genetik danışmanlığı için önemlidir ve uygun bir tedavi planı için multidisipliner bir yaklaşım gereklidir.

Keywords

Goldenhar sendromu , Hemifasiyal mikrozomi , Kraniyofasiyal mikrozomi , Kulak , Okulo-aurikulo-vertebral spektrum

Ethical Statement

Çalışma Helsinki Bildirgesi'ne uygun olarak yürütüldü. Çalışmaya başlamadan önce Mersin Üniversitesi Klinik Araştırmalar Araştırmalar Etik Kurulu’ndan (Karar No: 2025/322) etik onay alındı.

Supporting Institution

Çalışmayı maddi olarak destekleyen kişi/kuruluş yoktur.

Thanks

Bulunmamaktadır.

References

• Timberlake AT, Griffin C, Heike CL, et al. Haploinsufficiency of SF3B2 causes craniofacial microsomia. Nat Commun. 2021;12(1):4680. doi:10.1038/s41467-021-24852-9
• Wang Y, Ping L, Luan X, et al. A mutation in VWA1, encoding von Willebrand factor A domain-containing protein 1, is associated with hemifacial microsomia. Front Cell Dev Biol 2020; 8:971004. doi:10.3389/fcell.2020.571004
• Hassani A, Aghdam H, Fazel S, et al. Oculo-auriculo-vertebral spectrum with complete absence of the right condyle and ramus - case report. Human Pathology: Case Reports 2019;15:50-53. https://doi.org/10.1016/j.ehpc.2018.10.012
• Barisic I, Odak L, Loane M, et al. Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe. Eur J Hum Genet. 2014;22(8):1026-1033. doi:10.1038/ejhg.2013.287
• Renkema RW, Spivack OKC; ERN CRANIO Working Group on Craniofacial Microsomia. European Guideline on Craniofacial Microsomia: A Version for Patients and Families. J Craniofac Surg. 2022;33(1):11-14. doi:10.1097/SCS.0000000000007987
• Atiba PM, Omotoso BR, Madaree A, Lazarus L. Hemifacial microsomia: a scoping review on progressive facial asymmetry due to mandibular deformity. Oral Maxillofac Surg. 2024;28(4):1441-1455. doi:10.1007/s10006-024-01276-5
• Buch SA, Babu S, Castelino RL, Rao S, Rao K. Hemifacial Microsomia - A Case Report With Review Of Literature. KOU Sag Bil Derg. 2017;3(1):17-19. doi:10.30934/kusbed.359179
• Strömland K, Miller M, Sjögreen L, et al. Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A. 2007;143A(12):1317-1325. doi:10.1002/ajmg.a.31769
• Renkema RW; and the ERN CRANIO Working Group on Craniofacial Microsomia. European Guideline Craniofacial Microsomia. J Craniofac Surg. 2020;31 Suppl 8:2385-2484. doi:10.1097/SCS.0000000000006691
• Shruthy R, Sharada P, Priya NK, et al. Hemifacial Microsomia A Case Report and Review. Nigerian Journal of Experimental and Clinical Biosciences 2017;5(1):p 25-29, doi:10.4103/njecp.njecp_33_15
• Marchant C, Anderson P, Schwarz Q, et al. Vessel-derived angiocrine IGF1 promotes Meckel's cartilage proliferation to drive jaw growth during embryogenesis. Development. 2020;147(11):dev190488. doi:10.1242/dev.190488
• Fabian P, Tseng KC, Thiruppathy M, et al. Lifelong single-cell profiling of cranial neural crest diversification in zebrafish. Nat Commun. 2022;13(1):13. doi:10.1038/s41467-021-27594-w
• Gougoutas AJ, Singh DJ, Low DW, Bartlett SP. Hemifacial microsomia: clinical features and pictographic representations of the OMENS classification system. Plast Reconstr Surg. 2007;120(7):112e-113e. doi:10.1097/01.prs.0000287383.35963.5e
• Chen Q, Zhao Y, Shen G, Dai J. Etiology and Pathogenesis of Hemifacial Microsomia. J Dent Res. 2018;97(12):1297-1305. doi:10.1177/0022034518795609
• Singhal D, Tripathy K. Oculo Auriculo Vertebral Spectrum. In: StatPearls. Treasure Island (FL): StatPearls Publishing; August 25, 2023. https://www.ncbi.nlm.nih.gov/books/NBK576398/
• Renkema RW, Caron CJJM, Mathijssen IMJ, et al. Vertebral anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg. 2017;46(10):1319-1329. doi:10.1016/j.ijom.2017.04.025
• Krishnamurthy B, Elavenil P, Suvy M, Vinay VK, Anshul R. Oral and Maxillofacial Surgery for the Clinician. Springer Published in 2021 Manikandhan Ramanathan Hemifacial Microsomia (HFM) and Treacher Collins Syndrome 1769-1812 https://lib.ugent.be/catalog/ebk01:4100000011763257
• Ramanathan, M. Hemifacial Microsomia (HFM) and Treacher Collins Syndrome. In: Bonanthaya, K., Panneerselvam, E., Manuel, S., Kumar, V.V., Rai, A. (eds) Oral and Maxillofacial Surgery for the Clinician. Springer, Singapore. 2021:1769-1882. https://doi.org/10.1007/978-981-15-1346-6_78
• Heike CL, Wallace E, Speltz ML, et al. Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research. Birth Defects Res A Clin Mol Teratol. 2016;106(11):915-926. doi:10.1002/bdra.23560
• International Consortium for Health Outcomes Measurement. ICHOM Craniofacial Microsomia Data Collection Reference Guide. 2017. https://www.ichom.org/resource/craniofacial-microsomia-reference-guide/
• Renkema RW. Craniofacial Microsomia Beyond The First and Second Pharyngeal Arch [PhD tezi]. Rotterdam, Holland: Erasmus University; 2024
• Elsten EECM, Caron CJJM, Dunaway DJ et al. Dental anomalies in craniofacial microsomia: A systematic review. Orthod Craniofac Res. 2020;23(1):16-26. doi:10.1111/ocr.12351
• Ongkosuwito E, van der Vlies L, Kraaij V, et al. Stress in Parents of a Child with Hemifacial Microsomia: The Role of Child Characteristics and Parental Coping Strategies. Cleft Palate Craniofac J. 2018;55(7):959-965. doi:10.1597/15-229
• Speltz ML, Wallace ER, Collett BR, et al. Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia. Plast Reconstr Surg. 2017;140(3):571-580. doi:10.1097/PRS.0000000000003584