Isolated coronal synostosis

MedGen UID:: 431600
•Concept ID:: CN043619
•: Disease or Syndrome

Synonyms:	FGFR2-Related Isolated Coronal Synostosis; FGFR3-Related Isolated Coronal Synostosis

Genes (locations): Gene(s) directly associated with this condition or phenotype.	FGFR2 (10q26.13); FGFR3 (4p16.3)

Authors:
Tara Wenger | Danny Miller | Kelly Evans view full author information

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Abnormal axial skeleton morphology
- Abnormal skull morphology
  - Abnormality of the fontanelles or cranial sutures
    - Abnormality of cranial sutures
      - Craniosynostosis syndrome
        TWIST1-related craniosynostosis
        Isolated coronal synostosis

Recent clinical studies

Etiology

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Öwall L, Kreiborg S, Dunø M, Hermann NV, Darvann TA, Hove H
Clin Dysmorphol 2020 Jan;29(1):1-9. doi: 10.1097/MCD.0000000000000300. PMID: 31609728

Anthropometric proportion indices in the craniofacial regions of 73 patients with forms of isolated coronal synostosis.

Farkas LG, Katic MJ, Forrest CR
Ann Plast Surg 2005 Nov;55(5):495-9. doi: 10.1097/01.sap.0000182656.59384.a2. PMID: 16258301

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.

Thomas GP, Wilkie AO, Richards PG, Wall SA
J Craniofac Surg 2005 May;16(3):347-52; discussion 353-4. doi: 10.1097/01.scs.0000157024.56055.f2. PMID: 15915095

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.

Renier D, El-Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E
J Neurosurg 2000 Apr;92(4):631-6. doi: 10.3171/jns.2000.92.4.0631. PMID: 10761652

See all (4)

Diagnosis

Phenotypic variability in Muenke syndrome-observations from five Danish families.

Öwall L, Kreiborg S, Dunø M, Hermann NV, Darvann TA, Hove H
Clin Dysmorphol 2020 Jan;29(1):1-9. doi: 10.1097/MCD.0000000000000300. PMID: 31609728

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.

Thomas GP, Wilkie AO, Richards PG, Wall SA
J Craniofac Surg 2005 May;16(3):347-52; discussion 353-4. doi: 10.1097/01.scs.0000157024.56055.f2. PMID: 15915095

See all (2)

Therapy

FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis.

Thomas GP, Wilkie AO, Richards PG, Wall SA
J Craniofac Surg 2005 May;16(3):347-52; discussion 353-4. doi: 10.1097/01.scs.0000157024.56055.f2. PMID: 15915095

See all (1)