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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.
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.
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.
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.
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.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
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.
Bifid uvula
MedGen UID:
1646931
Concept ID:
C4551488
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.
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.

Professional guidelines

PubMed

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
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
Prahl-Andersen B, Fischer CE
Semin Orthod 1996 Jun;2(2):64-83. doi: 10.1016/s1073-8746(96)80045-4. PMID: 9161272

Recent clinical studies

Etiology

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
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
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
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
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

Diagnosis

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
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
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
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
Birgfeld C, Heike C
Clin Plast Surg 2019 Apr;46(2):207-221. doi: 10.1016/j.cps.2018.12.001. PMID: 30851752

Therapy

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
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
Bekisz JM, Fryml E, Flores RL
J Craniofac Surg 2018 Mar;29(2):293-301. doi: 10.1097/SCS.0000000000004100. PMID: 29084117
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
Scheuerle AE, Good RA, Habal MB
J Craniofac Surg 1990 Apr;1(2):88-90. doi: 10.1097/00001665-199001020-00003. PMID: 2094477

Prognosis

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
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
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
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
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

Gonçalves Ferraz B, Vendramini-Pittoli S, Gomes LP, Madeira Brandão M, Alonso N, Tonello C
J Craniofac Surg 2023 Jun 1;34(4):e398-e401. Epub 2023 May 1 doi: 10.1097/SCS.0000000000009326. PMID: 37126414
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
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
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
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

Recent systematic reviews

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
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
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
Bekisz JM, Fryml E, Flores RL
J Craniofac Surg 2018 Mar;29(2):293-301. doi: 10.1097/SCS.0000000000004100. PMID: 29084117
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

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