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Trigonocephaly 2(TRIGNO2)

MedGen UID:
482604
Concept ID:
C3280974
Congenital Abnormality
Synonym: TRIGNO2
 
Gene (location): FREM1 (9p22.3)
 
Monarch Initiative: MONDO:0013774
OMIM®: 614485

Definition

Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170). [from OMIM]

Clinical features

From HPO
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Trigonocephaly
MedGen UID:
82713
Concept ID:
C0265535
Congenital Abnormality
Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Metopic synostosis
MedGen UID:
395990
Concept ID:
C1860819
Congenital Abnormality
Premature fusion of the metopic suture.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).

Professional guidelines

PubMed

Faasse M, Mathijssen IMJ; ERN CRANIO Working Group on Craniosynostosis
J Craniofac Surg 2023 Jan-Feb 01;34(1):418-433. Epub 2022 Dec 6 doi: 10.1097/SCS.0000000000009143. PMID: 36472893Free PMC Article
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E
J Appl Genet 2018 May;59(2):133-147. Epub 2018 Feb 1 doi: 10.1007/s13353-017-0423-4. PMID: 29392564
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article

Recent clinical studies

Etiology

Tien C, Johns AL, Choi DG, de Castro-Abeger A, Buswell N, McComb JG, Durham SR, Urata MM
J Craniofac Surg 2023 Jun 1;34(4):1259-1261. Epub 2023 Apr 27 doi: 10.1097/SCS.0000000000009330. PMID: 37101323
Skadorwa T, Wierzbieniec O
Childs Nerv Syst 2022 Nov;38(11):2163-2170. Epub 2022 Aug 5 doi: 10.1007/s00381-022-05624-2. PMID: 35931858Free PMC Article
Vinchon M
Neurochirurgie 2019 Nov;65(5):239-245. Epub 2019 Sep 25 doi: 10.1016/j.neuchi.2019.09.006. PMID: 31562880
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Diagnosis

Borad V, Cordes EJ, Liljeberg KM, Sylvanus TS, Lim PK, Wood RJ
J Craniofac Surg 2019 Nov-Dec;30(8):2390-2392. doi: 10.1097/SCS.0000000000006058. PMID: 31633668
Kajdic N, Spazzapan P, Velnar T
Bosn J Basic Med Sci 2018 May 20;18(2):110-116. doi: 10.17305/bjbms.2017.2083. PMID: 28623672Free PMC Article
Buchanan EP, Xue AS, Hollier LH Jr
Plast Reconstr Surg 2014 Jul;134(1):128e-153e. doi: 10.1097/PRS.0000000000000308. PMID: 25028828
Fearon JA
Plast Reconstr Surg 2014 May;133(5):1261-1275. doi: 10.1097/PRS.0000000000000093. PMID: 24776557
Johnson D, Wilkie AO
Eur J Hum Genet 2011 Apr;19(4):369-76. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.235. PMID: 21248745Free PMC Article

Therapy

Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Greives MR, Ware BW, Tian AG, Taylor JA, Pollack IF, Losee JE
Ann Plast Surg 2016 Feb;76(2):211-5. doi: 10.1097/SAP.0000000000000518. PMID: 25954848
Steinberg JP, Rawlani R, Humphries LS, Rawlani V, Vicari FA
Plast Reconstr Surg 2015 Mar;135(3):833-842. doi: 10.1097/PRS.0000000000000955. PMID: 25415272
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article

Prognosis

Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie 2019 Nov;65(5):196-201. Epub 2019 Oct 9 doi: 10.1016/j.neuchi.2019.10.003. PMID: 31605683
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Clinical prediction guides

Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714
Collmann H, Sörensen N, Krauss J
Childs Nerv Syst 1996 Nov;12(11):664-8. doi: 10.1007/BF00366148. PMID: 9118128

Recent systematic reviews

Shlobin NA, Baticulon RE, Ortega CA, Du L, Bonfield CM, Wray A, Forrest CR, Dewan MC
World Neurosurg 2022 Aug;164:413-423.e3. Epub 2022 May 27 doi: 10.1016/j.wneu.2022.05.093. PMID: 35636659
Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Rozas MF, Benavides F, León L, Repetto GM
Orphanet J Rare Dis 2019 Aug 9;14(1):195. doi: 10.1186/s13023-019-1170-x. PMID: 31399107Free PMC Article
Garland CB, Camison L, Dong SM, Mai RS, Losee JE, Goldstein JA
J Craniofac Surg 2018 Jan;29(1):14-20. doi: 10.1097/SCS.0000000000003997. PMID: 29023296

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