U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Craniofacial microsomia 2(CFM2)

MedGen UID:
1830923
•Concept ID:
C5781610
•
Congenital Abnormality
Synonym: CFM2
 
Gene (location): FOXI3 (2p11.2)
 
Monarch Initiative: MONDO:0958194
OMIM®: 620444

Definition

Most patients with craniofacial microsomia-2 (CFM2) exhibit isolated unilateral or bilateral grade III microtia, with or without aural atresia, although some patients exhibit only minor external ear defects. Mandibular hypoplasia, micrognathia, and dental anomalies have also been observed (Quiat et al., 2023; Mao et al., 2023). For a general phenotypic description and discussion of genetic heterogeneity of craniofacial microsomia, see CFM1 (164210). [from OMIM]

Clinical features

From HPO
Microtia
MedGen UID:
57535
•Concept ID:
C0152423
•
Congenital Abnormality
Underdevelopment of the external ear.
See: Feature record | Search on this feature
Microtia, second degree
MedGen UID:
892536
•Concept ID:
C4020797
•
Anatomical Abnormality
Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear.
See: Feature record | Search on this feature
Microtia, third degree
MedGen UID:
866820
•Concept ID:
C4021174
•
Anatomical Abnormality
Presence of some auricular structures, but none of these structures conform to recognized ear components.
See: Feature record | Search on this feature
Microtia, first degree
MedGen UID:
866821
•Concept ID:
C4021175
•
Anatomical Abnormality
Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean.
See: Feature record | Search on this feature
Dermal sinus tract
MedGen UID:
1815047
•Concept ID:
C5706141
•
Congenital Abnormality
A dermal sinus tract is an abnormality present at birth over the dorsal midline where an abnormal epithelialized connection from the skin tracks inwards towards the spine, most commonly seen in the lumbosacral region.
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
Submucous cleft palate
MedGen UID:
1645448
•Concept ID:
C4551487
•
Congenital Abnormality
A cleft of the muscular portion of the palate that is covered by mucous membrane.
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
Skin tags
MedGen UID:
11452
•Concept ID:
C0037293
•
Neoplastic Process
Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumors that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Psychosocial and Health-Related Experiences of Individuals With Microtia and Craniofacial Microsomia and Their Families: Narrative Review Over 2 Decades.
Johns AL, Stock NM, Costa B, Billaud Feragen K, Crerand CE
Cleft Palate Craniofac J 2023 Sep;60(9):1090-1112. Epub 2022 Apr 5 doi: 10.1177/10556656221091699. PMID: 35382590Free PMC Article
Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.
Chan CH, Hu AC, Jain NS, Dang BN, Liu MT, Bertrand AA, Wilson LF, Lee JC
J Craniofac Surg 2021 Nov-Dec 01;32(8):2771-2773. doi: 10.1097/SCS.0000000000007938. PMID: 34727477
Novel risk factors for craniofacial microsomia and assessment of their utility in clinic diagnosis.
Xu X, Wang B, Jiang Z, Chen Q, Mao K, Shi X, Yan C, Hu J, Zha Y, Ma C, Zhang J, Guo R, Wang L, Zhao S, Liu H, Zhang Q, Zhang YB
Hum Mol Genet 2021 May 31;30(11):1045-1056. doi: 10.1093/hmg/ddab055. PMID: 33615373

Recent clinical studies

Etiology

Community participation in youth with craniofacial microsomia.
Kaelin VC, Wallace ER, Werler MM, Collett BR, Khetani MA
Disabil Rehabil 2022 Jan;44(2):253-260. Epub 2020 Jun 1 doi: 10.1080/09638288.2020.1765031. PMID: 32478589Free PMC Article
Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study.
Rooijers W, Renkema RW, Loudon SE, Khoshnaw T, Padwa BL, Dunaway DJ, Koudstaal MJ, Forrest CR, Caron CJJM
Int J Oral Maxillofac Surg 2021 Oct;50(10):1303-1311. Epub 2021 Mar 20 doi: 10.1016/j.ijom.2021.02.032. PMID: 33752938
Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia.
Johns AL, Wallace ER, Collett BR, Kapp-Simon KA, Drake AF, Heike CL, Kinter SL, Luquetti DV, Magee L, Norton S, Sie K, Speltz ML
Cleft Palate Craniofac J 2021 Jan;58(1):42-53. Epub 2020 Aug 12 doi: 10.1177/1055665620947987. PMID: 32783465Free PMC Article
Facial Expressiveness in Infants With and Without Craniofacial Microsomia: Preliminary Findings.
Hammal Z, Cohn JF, Wallace ER, Heike CL, Birgfeld CB, Oster H, Speltz ML
Cleft Palate Craniofac J 2018 May;55(5):711-720. Epub 2018 Jan 29 doi: 10.1177/1055665617753481. PMID: 29377723Free PMC Article
Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.
Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM
Plast Reconstr Surg 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584. PMID: 28841618Free PMC Article

Diagnosis

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Velopharyngeal Insufficiency in Craniofacial Microsomia: Prevalence, Diagnosis, and Treatment.
Chan CH, Hu AC, Jain NS, Dang BN, Liu MT, Bertrand AA, Wilson LF, Lee JC
J Craniofac Surg 2021 Nov-Dec 01;32(8):2771-2773. doi: 10.1097/SCS.0000000000007938. PMID: 34727477
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Bergamini LL, Spineli-Silva S, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Fontes MÍB, Monlleó IL
Congenit Anom (Kyoto) 2021 Sep;61(5):148-158. Epub 2021 May 10 doi: 10.1111/cga.12422. PMID: 33900643
Genomic imbalances in craniofacial microsomia.
Spineli-Silva S, Sgardioli IC, Dos Santos AP, Bergamini LL, Monlleó IL, Fontes MIB, Félix TM, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Gil-da-Silva-Lopes VL, Vieira TP
Am J Med Genet C Semin Med Genet 2020 Dec;184(4):970-985. Epub 2020 Nov 20 doi: 10.1002/ajmg.c.31857. PMID: 33215817
Craniofacial Microsomia.
Birgfeld C, Heike C
Clin Plast Surg 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. PMID: 30851752

Therapy

Addition of dose-intensified doxorubicin to standard chemotherapy for rhabdomyosarcoma (EpSSG RMS 2005): a multicentre, open-label, randomised controlled, phase 3 trial.
Bisogno G, Jenney M, Bergeron C, Gallego Melcón S, Ferrari A, Oberlin O, Carli M, Stevens M, Kelsey A, De Paoli A, Gaze MN, Martelli H, Devalck C, Merks JH, Ben-Arush M, Glosli H, Chisholm J, Orbach D, Minard-Colin V, De Salvo GL; European paediatric Soft tissue sarcoma Study Group
Lancet Oncol 2018 Aug;19(8):1061-1071. Epub 2018 Jun 22 doi: 10.1016/S1470-2045(18)30337-1. PMID: 29941280
Growth-Friendly Surgery Is Effective at Treating Early-Onset Scoliosis Associated With Goldenhar Syndrome.
Connell B, Oore JJ, Pahys JM, Thompson GH, St Hilaire T, Flynn T, El-Hawary R; Children's Spine Study Group; Growing Spine Study Group
Spine Deform 2018 May-Jun;6(3):327-333. doi: 10.1016/j.jspd.2017.11.005. PMID: 29735145
A Review of Randomized Controlled Trials in Cleft and Craniofacial Surgery.
Bekisz JM, Fryml E, Flores RL
J Craniofac Surg 2018 Mar;29(2):293-301. doi: 10.1097/SCS.0000000000004100. PMID: 29084117
Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.
Heike CL, Wallace E, Speltz ML, Siebold B, Werler MM, Hing AV, Birgfeld CB, Collett BR, Leroux BG, Luquetti DV
Birth Defects Res A Clin Mol Teratol 2016 Nov;106(11):915-926. doi: 10.1002/bdra.23560. PMID: 27891784
Involvement of the thymus and cellular immune system in craniofacial malformation syndromes.
Scheuerle AE, Good RA, Habal MB
J Craniofac Surg 1990 Apr;1(2):88-90. doi: 10.1097/00001665-199001020-00003. PMID: 2094477

Prognosis

Craniocervical Instability in Oculoauriculovertebral Spectrum.
Gomes LP, Ferraz BG, Brandão MM, Alonso N, Pittoli SV, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):1283-1286. Epub 2023 Jan 20 doi: 10.1097/SCS.0000000000009192. PMID: 36658685
Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Craniofacial microsomia: Reflections on diagnosis and severity assessment based on a series of cases.
Bergamini LL, Spineli-Silva S, Félix TM, Gil-da-Silva-Lopes VL, Vieira TP, Ribeiro EM, Xavier AC, Lustosa-Mendes E, Fontes MÍB, Monlleó IL
Congenit Anom (Kyoto) 2021 Sep;61(5):148-158. Epub 2021 May 10 doi: 10.1111/cga.12422. PMID: 33900643
Behavioral-Social Adjustment of Adolescents with Craniofacial Microsomia.
Wallace ER, Collett BR, Heike CL, Werler MM, Speltz ML
Cleft Palate Craniofac J 2018 May;55(5):664-675. Epub 2018 Jan 22 doi: 10.1177/1055665617750488. PMID: 29356621
Costochondral grafting in craniofacial microsomia.
Tahiri Y, Chang CS, Tuin J, Paliga JT, Lowe KM, Taylor JA, Bartlett SP
Plast Reconstr Surg 2015 Feb;135(2):530-541. doi: 10.1097/PRS.0000000000000914. PMID: 25626797

Clinical prediction guides

Determination of Extra Craniofacial Abnormalities in Patients With Craniofacial Microsomia.
Raposo BK, Ferreira GB, Silva ABDE, Ono MCC, de Souza J, da Silva Freitas R
J Craniofac Surg 2022 Jan-Feb 01;33(1):230-232. doi: 10.1097/SCS.0000000000007962. PMID: 34261967
Ocular and adnexal anomalies in craniofacial microsomia: Type and prevalence in a multicentre cohort study.
Rooijers W, Renkema RW, Loudon SE, Khoshnaw T, Padwa BL, Dunaway DJ, Koudstaal MJ, Forrest CR, Caron CJJM
Int J Oral Maxillofac Surg 2021 Oct;50(10):1303-1311. Epub 2021 Mar 20 doi: 10.1016/j.ijom.2021.02.032. PMID: 33752938
Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia.
Johns AL, Wallace ER, Collett BR, Kapp-Simon KA, Drake AF, Heike CL, Kinter SL, Luquetti DV, Magee L, Norton S, Sie K, Speltz ML
Cleft Palate Craniofac J 2021 Jan;58(1):42-53. Epub 2020 Aug 12 doi: 10.1177/1055665620947987. PMID: 32783465Free PMC Article
Facial Expressiveness in Infants With and Without Craniofacial Microsomia: Preliminary Findings.
Hammal Z, Cohn JF, Wallace ER, Heike CL, Birgfeld CB, Oster H, Speltz ML
Cleft Palate Craniofac J 2018 May;55(5):711-720. Epub 2018 Jan 29 doi: 10.1177/1055665617753481. PMID: 29377723Free PMC Article
Intelligence and Academic Achievement of Adolescents with Craniofacial Microsomia.
Speltz ML, Wallace ER, Collett BR, Heike CL, Luquetti DV, Werler MM
Plast Reconstr Surg 2017 Sep;140(3):571-580. doi: 10.1097/PRS.0000000000003584. PMID: 28841618Free PMC Article

Recent systematic reviews

Genotype-phenotype associations in microtia: a systematic review.
Wahdini SI, Idamatussilmi F, Pramanasari R, Prawoto AN, Wungu CDK, Putri IL, Gunadi
Orphanet J Rare Dis 2024 Apr 9;19(1):152. doi: 10.1186/s13023-024-03142-9. PMID: 38594752Free PMC Article
Management of unilateral craniofacial microsomia with orthopaedic functional appliances: A systematic literature review.
Aiyar A, Pedersen TK, Resnick CM, Nørholt SE, Verna C, Stoustrup PB
Orthod Craniofac Res 2024 Jun;27 Suppl 1:131-140. Epub 2023 Nov 21 doi: 10.1111/ocr.12729. PMID: 37987216
Surgical correction of the midface in craniofacial microsomia. Part 1: A systematic review.
van de Lande LS, Pluijmers BI, Caron CJJM, Wolvius EB, Dunaway DJ, Koudstaal MJ, Padwa BL
J Craniomaxillofac Surg 2018 Sep;46(9):1427-1435. Epub 2018 May 25 doi: 10.1016/j.jcms.2018.05.043. PMID: 29907434
A Review of Randomized Controlled Trials in Cleft and Craniofacial Surgery.
Bekisz JM, Fryml E, Flores RL
J Craniofac Surg 2018 Mar;29(2):293-301. doi: 10.1097/SCS.0000000000004100. PMID: 29084117
Central nervous system anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • 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
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...