Crouzon syndrome

Common Name(s)

Crouzon syndrome

Crouzon syndrome is a genetic disorder that causes the skull bones to fuse too early in development (craniosynostosis), causing changes to the shape of the head as well as abnormal facial features. These features may include wide-set eyes, a beaked nose, and a small upper jaw. Other features may include dental problems, hearing loss, and an opening in the lip and roof of the mouth (cleft lip and palate). Crouzon syndrome is the most common genetic craniosynostosis syndrome.

Crouzon syndrome is caused by a change (mutation) in the FGFR2 gene and is inherited in an autosomal dominant way, which means a mutation in only one of the two gene copies a person has is enough to cause the condition. The FGFR2 gene provides an instruction for the body to make a protein that tells bones to grow and fuse together. When there is a mutation in the FGFR2 gene, the skull bones fuse too early. Some cases of Crouzon syndrome occur due to a new (de novo) mutation in the affected individual, while other cases are inherited from an affected parent.

Crouzon syndrome is considered in a child who has an abnormal head shape and facial features. A doctor may order imaging studies, such as a head CT or MRI, to look for clues of the condition. Genetic testing can be used to confirm the diagnosis. Surgery may be needed to fix the skull bone abnormalities. If your child has been diagnosed with Crouzon syndrome, talk with their doctor about all current treatment options. Support groups can provide additional information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Crouzon syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

Last Updated: 19 Nov 2014

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

Last Updated: 7 Jul 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Crouzon syndrome" for support, advocacy or research.

Craniosynostosis and Positional Plagiocephaly Support Inc

Our mission is to spread awareness, educate and offer support and guidance to families affected by Craniosynostosis and/or Positional Plagiocephaly as well as any craniofacial concern affecting the skull.

http://www.cappskids.org/

Last Updated: 19 Nov 2014

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World Craniofacial Foundation

The mission of the World Craniofacial Foundation is to provide help, hope, and healing for children with craniofacial abnormalities and their families.

http://www.worldcf.org

Last Updated: 7 Jul 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Crouzon syndrome" returned 25 free, full-text research articles on human participants. First 3 results:

Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.
 

Author(s): Ying Lin, Hongbin Gao, Siming Ai, Jacob V P Eswarakumar, Tao Li, Bingqian Liu, Hongye Jiang, Yuhua Liu, Xialin Liu, Yonghao Li, Yao Ni, Jiangna Chen, Zhuoling Lin, Xiaoling Liang, Chenjin Jin, Xinhua Huang, Lin Lu, Yizhi Liu

Journal: Mol Med Rep. 2016 Sep;14(3):1941-6.

 

Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and ...

Last Updated: 8 Aug 2016

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Crouzon syndrome: Ophthalmologic complications in an untreated adult patient.
 

Author(s): M Sastre-Ibáñez, A García-Asorey, E Santos-Bueso, J L Lerma-Gallardo, S García-Sáenz, J García-Feijoo

Journal: J Fr Ophtalmol. 2015 Oct;38(8):e177-8.

 

Last Updated: 12 Oct 2015

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Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome.
 

Author(s): Dragoslava Djerić, Ljiljana Čvorović, Srbislav Blažić

Journal: Srp Arh Celok Lek. ;143(1-2):68-70.

 

Crouzon syndrome is an autosomal dominant genetic disease characterized by bicoronal craniosynostosis, exorbitism with hypertelorism, and maxillary hypoplasia with mandibular prognathism.

Last Updated: 7 Apr 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Crouzon syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

[Presentation of two cases of Crouzon syndrome: allelic cranio-stenotic conditions of FGFR genes].
 

Author(s): R Vidal Sanahuja, E Gean Molins, C Sánchez Garré, J Quilis Esquerra, G García Fructuoso, J M Costa Clara

Journal: An Pediatr (Barc). 2012 Oct;77(4):272-8.

 

Craniosynostosis is an abnormal and premature fusion of any cranial suture. Twenty per cent of them involve any specific syndrome with Mendelian transmission; the other 80% are "non syndromic", although but 10-14% of them are genetically transmitted. Using the experience of two patients ...

Last Updated: 24 Sep 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

ARQ 087 in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma
 

Status: Recruiting

Condition Summary: Intrahepatic Cholangiocarcinoma; Combined Hepatocellular and Cholangiocarcinoma

 

Last Updated: 19 Sep 2017

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A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma
 

Status: Recruiting

Condition Summary: Advanced Cholangiocarcinoma

 

Last Updated: 24 Jul 2017

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Pan FGFR Kinase Inhibitor BGJ398 in Treating Patients With FGFR1-3 Translocated, Mutated, or Amplified Recurrent Head and Neck Cancer
 

Status: Not yet recruiting

Condition Summary: FGFR Gene Amplification; FGFR1 Gene Amplification; FGFR2 Gene Amplification; FGFR2 Gene Mutation; FGFR3 Gene Mutation; Head and Neck Squamous Cell Carcinoma; Human Papillomavirus Infection; Recurrent Head and Neck Carcinoma; Recurrent Nasopharynx Carcinoma; Recurrent Oropharyngeal Squamous Cell Carcinoma

 

Last Updated: 10 Jul 2017

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