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Craniofacial microsomia 2(CFM2)

MedGen UID:: 1830923
•Concept ID:: C5781610
•: Congenital Abnormality

Synonym:	CFM2

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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Micrognathia

MedGen UID:: 44428
•Concept ID:: C0025990
•: Congenital Abnormality

Developmental hypoplasia of the mandible.

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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.

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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.

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Abnormality of head or neck
- Bifid uvula
- Submucous cleft palate
Abnormality of the integument
- Skin tags
Abnormality of the musculoskeletal system
- Micrognathia
Abnormality of the nervous system
- Dermal sinus tract
Ear malformation

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCraniofacial microsomia
- Craniofacial microsomia 1
- CROGVCraniofacial microsomia 2

Branchial arch or oral-acral syndrome
- Craniofacial microsomia
  - Craniofacial microsomia 2

Professional guidelines

PubMed

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

Prenatal diagnosis of pericallosal lipoma: Systematic review.

Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959

Clinical features and surgical management of dermolipomas.

McNab AA, Wright JE, Caswell AG
Aust N Z J Ophthalmol 1990 May;18(2):159-62. doi: 10.1111/j.1442-9071.1990.tb00608.x. PMID: 2390243

See all (21)

Recent clinical studies

Etiology

Craniofacial Microsomia: New Updates in Spinal Anomalies.

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

Posterior semi-circular canal electrode misplacement in Goldenhar's syndrome.

Castellino A, Rayamajhi P, Kurkure R, Kameswaran M
Cochlear Implants Int 2021 Jan;22(1):56-60. Epub 2020 Aug 6 doi: 10.1080/14670100.2020.1802905. PMID: 32762309

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

Genetics of microtia and associated syndromes.

Alasti F, Van Camp G
J Med Genet 2009 Jun;46(6):361-9. Epub 2009 Mar 16 doi: 10.1136/jmg.2008.062158. PMID: 19293168

Hypodontia in hemifacial microsomia.

Maruko E, Hayes C, Evans CA, Padwa B, Mulliken JB
Cleft Palate Craniofac J 2001 Jan;38(1):15-9. doi: 10.1597/1545-1569_2001_038_0015_hihm_2.0.co_2. PMID: 11204676

See all (233)

Diagnosis

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

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

Branchial arch syndromes.

Alfi D, Lam D, Gateno J
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):167-73. Epub 2014 Jul 15 doi: 10.1016/j.cxom.2014.04.003. PMID: 25171997

Goldenhar's syndrome.

Feingold M, Baum J
Am J Dis Child 1978 Feb;132(2):136-8. doi: 10.1001/archpedi.1978.02120270034006. PMID: 626178

See all (189)

Therapy

Pediatric Use of Recombinant Human Nerve Growth Factor 20 μg/mL Eye Drops (Cenegermin) for Bilateral Neurotrophic Keratopathy in Congenital Corneal Anesthesia.

Leto MG, Toro ME, Indemini PE, Fruttero C, Denina M, Dalmazzo C, Sannia A, Vaiano AS
Cornea 2021 Feb 1;40(2):228-231. doi: 10.1097/ICO.0000000000002612. PMID: 33201057

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

Sutureless Lamellar Corneoscleral Patch Graft With Fibrin Sealant for Limbal Dermoid Removal.

Zhou AX, Ambati BK
J Pediatr Ophthalmol Strabismus 2016 Jun 3;53 Online:e22-5. doi: 10.3928/01913913-20160509-03. PMID: 27281829

Temporal bone resorption: an uncommon complication after mandibular distraction.

Feng S, Zhang Z, Shi L, Tang X, Liu W, Yin L, Yang B
J Craniofac Surg 2015 Mar;26(2):e185-7. doi: 10.1097/SCS.0000000000001452. PMID: 25748940

Probably monozygotic twins with discordance for Goldenhar syndrome.

Papp Z, Gardó S, Walawska J
Clin Genet 1974;5(2):86-90. doi: 10.1111/j.1399-0004.1974.tb01666.x. PMID: 4829428

See all (32)

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

Identification of Hub Genes in Hemifacial Microsomia: Evidence From Bioinformatic Analysis.

Zhao S, Sun P, Li X, Xu X, Peng Q, Shu K, Ma L, Liang Y, Liu B, Zhang Z
J Craniofac Surg 2022 Mar-Apr 01;33(2):e145-e149. doi: 10.1097/SCS.0000000000008164. PMID: 34855631

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

Anomalous Extratemporal Facial Nerve in Oculoauriculovertebral Spectrum.

Head LK, Xuan L, Boyd KU, Peters DA
Cleft Palate Craniofac J 2018 May;55(5):769-772. Epub 2018 Feb 28 doi: 10.1177/1055665618756707. PMID: 29489413

Hemifacial spasm or subcortical epilepsy?

Arzimanoglou AA, Salefranque F, Goutières F, Aicardi J
Epileptic Disord 1999 Jun;1(2):121-5. PMID: 10937142

See all (106)

Clinical prediction guides

Craniofacial Microsomia: New Updates in Spinal Anomalies.

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

Neurotrophic Keratitis in a Pediatric Patient With Goldenhar Syndrome and Trigeminal Aplasia Successfully Treated by Corneal Neurotization.

Rollon-Mayordomo A, Mataix-Albert B, Espejo-Arjona F, Herce-Lopez J, Lledo-Villar L, Caparros-Escudero C, Infante-Cossio P
Ophthalmic Plast Reconstr Surg 2022 Mar-Apr 01;38(2):e49-e51. doi: 10.1097/IOP.0000000000002086. PMID: 34798657

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

See all (131)

Recent systematic reviews

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

Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice.

Amirhassankhani S, Lloyd MS
J Craniofac Surg 2018 Mar;29(2):372-375. doi: 10.1097/SCS.0000000000004201. PMID: 29239919

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

See all (9)

MedGen

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Craniofacial microsomia 2(CFM2)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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