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Abnormality of the fontanelles or cranial sutures

MedGen UID:: 871380
•Concept ID:: C4025876
•: Anatomical Abnormality

HPO:	HP:0000235

Definition

Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of the fontanelles or cranial sutures

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormality of the skeletal system
    - Abnormal skeletal morphology
      - Abnormal axial skeleton morphology
        Abnormal skull morphology
        Abnormality of the fontanelles or cranial sutures
        Abnormality of cranial sutures
        Abnormality of the metopic suture
        Metopic depression
        Metopic suture patent to nasal root
        Metopic synostosis
        Prominent metopic ridge
        Accessory cranial suture
        Craniosynostosis syndrome
        Acrocephalosyndactyly
        Coronal craniosynostosis
        Craniosynostosis 2
        Craniosynostosis 4
        Multiple suture craniosynostosis
        Sagittal craniosynostosis
        Squamosal suture synostosis
        TCF12-related craniosynostosis
        TWIST1-related craniosynostosis
        Delayed cranial suture closure
        Delayed closure of the anterior fontanelle
        Ridged cranial sutures
        Sclerotic cranial sutures
        Wide cranial sutures
        Widely patent fontanelles and sutures
        Widely patent coronal suture
        Widely patent sagittal suture
        Wormian bones
        Abnormality of fontanelles
        Abnormality of the anterior fontanelle
        Midline skin dimples over anterior/posterior fontanelles
        Premature anterior fontanel closure
        Small anterior fontanelle
        Bulging fontanelle
        Extra fontanelles
        Large fontanelles
        Large posterior fontanelle
        Wide anterior fontanel
        Premature closure of fontanelles
        Premature posterior fontanelle closure
        Small fontanelle
        Sunken fontanelle

Professional guidelines

PubMed

Diagnosis and Surgical Management of Neonatal Hydrocephalus.

Pindrik J, Schulz L, Drapeau A
Semin Pediatr Neurol 2022 Jul;42:100969. Epub 2022 Apr 8 doi: 10.1016/j.spen.2022.100969. PMID: 35868728

The clinical manifestations, molecular mechanisms and treatment of craniosynostosis.

Stanton E, Urata M, Chen JF, Chai Y
Dis Model Mech 2022 Apr 1;15(4) Epub 2022 Apr 22 doi: 10.1242/dmm.049390. PMID: 35451466 Free PMC Article

Craniosynostosis - Recognition, clinical characteristics, and treatment.

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: 28623672 Free PMC Article

See all (77)

Recent clinical studies

Etiology

The metopic suture: Natural history.

Vinchon M
Neurochirurgie 2019 Nov;65(5):239-245. Epub 2019 Sep 25 doi: 10.1016/j.neuchi.2019.09.006. PMID: 31562880

Craniosynostosis and hypophosphatasia.

Di Rocco F, Baujat G, Cormier-Daire V, Rothenbuhler A, Linglart A
Arch Pediatr 2017 May;24(5S2):5S89-5S92. doi: 10.1016/S0929-693X(18)30022-8. PMID: 29405940

Midpalatal suture maturation: classification method for individual assessment before rapid maxillary expansion.

Angelieri F, Cevidanes LH, Franchi L, Gonçalves JR, Benavides E, McNamara JA Jr
Am J Orthod Dentofacial Orthop 2013 Nov;144(5):759-69. doi: 10.1016/j.ajodo.2013.04.022. PMID: 24182592 Free PMC Article

Posterior plagiocephaly.

Kalra R, Walker ML
Childs Nerv Syst 2012 Sep;28(9):1389-93. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1784-y. PMID: 22872253

Complex craniosynostosis.

Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-961. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124

See all (995)

Diagnosis

Diagnosis and Management of Suture-Related Concerns of the Infant Skull.

Hersh DS, Bookland MJ, Hughes CD
Pediatr Clin North Am 2021 Aug;68(4):727-742. doi: 10.1016/j.pcl.2021.04.002. PMID: 34247705

Craniosynostosis - Recognition, clinical characteristics, and treatment.

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: 28623672 Free PMC Article

Posterior plagiocephaly.

Kalra R, Walker ML
Childs Nerv Syst 2012 Sep;28(9):1389-93. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1784-y. PMID: 22872253

Craniosynostosis.

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: 21248745 Free PMC Article

Lambdoid synostosis.

Vander Kolk CA, Carson BS
Clin Plast Surg 1994 Oct;21(4):575-84. PMID: 7813157

See all (929)

Therapy

Skeletal and alveolar changes in conventional rapid palatal expansion (RPE) and miniscrew-assisted RPE (MARPE): a prospective randomized clinical trial using low-dose CBCT.

Chun JH, de Castro ACR, Oh S, Kim KH, Choi SH, Nojima LI, Nojima MDCG, Lee KJ
BMC Oral Health 2022 Apr 8;22(1):114. doi: 10.1186/s12903-022-02138-w. PMID: 35395801 Free PMC Article

Syndromic Craniosynostosis.

Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747

Nonsyndromic Craniosynostosis.

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

Pycnodysostosis at otorhinolaryngology.

Baglam T, Binnetoglu A, Fatih Topuz M, Baş Ikizoglu N, Ersu R, Turan S, Sarı M
Int J Pediatr Otorhinolaryngol 2017 Apr;95:91-96. Epub 2017 Feb 11 doi: 10.1016/j.ijporl.2017.02.009. PMID: 28576543

Congenital hypothyroidism.

Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182 Free PMC Article

See all (275)

Prognosis

Subarachnomegaly-venous congestion of infancy.

Sainz LV, Schuhmann MU
Childs Nerv Syst 2021 Nov;37(11):3455-3463. Epub 2021 Oct 23 doi: 10.1007/s00381-021-05328-z. PMID: 34687332 Free PMC Article

Nonsyndromic Craniosynostosis.

Tooth-borne vs bone-borne rapid maxillary expanders in late adolescence.

Lin L, Ahn HW, Kim SJ, Moon SC, Kim SH, Nelson G
Angle Orthod 2015 Mar;85(2):253-62. Epub 2014 Dec 9 doi: 10.2319/030514-156.1. PMID: 25490552 Free PMC Article

Congenital hypothyroidism.

Rastogi MV, LaFranchi SH
Orphanet J Rare Dis 2010 Jun 10;5:17. doi: 10.1186/1750-1172-5-17. PMID: 20537182 Free PMC Article

Hydrocephalus in children.

Rizvi R, Anjum Q
J Pak Med Assoc 2005 Nov;55(11):502-7. PMID: 16304873

See all (565)

Clinical prediction guides

Molecular Mechanisms Involved in Craniosynostosis.

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: 36593018 Free PMC Article

Evaluation of factors related to the success of miniscrew-assisted rapid palatal expansion.

Oliveira CB, Ayub P, Angelieri F, Murata WH, Suzuki SS, Ravelli DB, Santos-Pinto A
Angle Orthod 2021 Mar 1;91(2):187-194. doi: 10.2319/051420-436.1. PMID: 33351888 Free PMC Article

Nonsyndromic Craniosynostosis.

Midpalatal suture maturation: classification method for individual assessment before rapid maxillary expansion.

Monosomy 1p36.

Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720 Free PMC Article

See all (656)

Recent systematic reviews

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS, Calpena E, Weber A, Wilson LC, Twigg SRF, Wilkie AOM
Genes (Basel) 2023 Feb 28;14(3) doi: 10.3390/genes14030615. PMID: 36980886 Free PMC Article

Management of Lambdoid Craniosynostosis: A Comprehensive and Systematic Review.

Reardon T, Fiani B, Kosarchuk J, Parisi A, Shlobin NA
Pediatr Neurosurg 2022;57(1):1-16. Epub 2021 Dec 3 doi: 10.1159/000519175. PMID: 34864743

Postnatal diagnosis of single-suture craniosynostosis with cranial ultrasound: a systematic review.

Whittall I, Lambert WA, Moote DJ, Bookland MJ, Martin JE, Hughes CD, Hersh DS
Childs Nerv Syst 2021 Dec;37(12):3705-3714. Epub 2021 Oct 5 doi: 10.1007/s00381-021-05301-w. PMID: 34611761

The State of Technology in Craniosynostosis.

Safran T, Viezel-Mathieu A, Beland B, Azzi AJ, Galli R, Gilardino M
J Craniofac Surg 2018 Jun;29(4):904-907. doi: 10.1097/SCS.0000000000004399. PMID: 29498975

Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.

Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204

See all (24)

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Abnormality of the fontanelles or cranial sutures

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

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