Craniosynostosis 1

Common Name(s)

Craniosynostosis 1

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability ({8:Fitzpatrick, 2013}). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; {604757}) is caused by mutation in the MSX2 gene ({123101}) on chromosome 5q. Craniosynostosis-3 (CRS3; {615314}) is caused by mutation in the TCF12 gene ({600480}) on chromosome 15q21. Craniosynostosis-4 (CRS4; {600775}) is caused by mutation in the ERF gene ({611888}) on chromosome 19q13. Susceptibility to craniosynostosis-5 (CRS5; {615529}) is conferred by variation in the ALX4 gene ({605420}) on chromosome 7p21. Craniosynostosis-6 (CRS6; {616602}) is caused by mutation in the ZIC1 gene ({600470}) on chromosome 3q24.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Craniosynostosis 1" for support, advocacy or research.

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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 "Craniosynostosis 1" returned 5 free, full-text research articles on human participants. First 3 results:

Craniosynostosis-associated gene nell-1 is regulated by runx2.
 

Author(s): Thien Truong, Xinli Zhang, Dharmini Pathmanathan, Chia Soo, Kang Ting

Journal: J. Bone Miner. Res.. 2007 Jan;22(1):7-18.

 

We studied the transcriptional regulation of NELL-1, a craniosynostosis-related gene. We identitifed three OSE2 elements in the NELL-1 promoter that are directly bound and transactivated by Runx2. Forced expression of Runx2 induces NELL-1 expression in rat calvarial cells.

Last Updated: 14 Dec 2006

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Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity.
 

Author(s): Omar A Ibrahimi, Fuming Zhang, Anna V Eliseenkova, Robert J Linhardt, Moosa Mohammadi

Journal: Hum. Mol. Genet.. 2004 Jan;13(1):69-78.

 

Identical proline-->arginine gain-of-function mutations in fibroblast growth factor receptor (FGFR) 1 (Pro252Arg), FGFR2 (Pro253Arg) and FGFR3 (Pro250Arg), result in type I Pfeiffer, Apert and Muenke craniosynostosis syndromes, respectively. Here, we characterize the effects of proline-->arginine ...

Last Updated: 16 Dec 2003

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Craniosynostosis in transgenic mice overexpressing Nell-1.
 

Author(s): Xinli Zhang, Shun'ichi Kuroda, Dale Carpenter, Ichiro Nishimura, Chia Soo, Rex Moats, Keisuke Iida, Eric Wisner, Fei-Ya Hu, Steve Miao, Steve Beanes, Catherine Dang, Heleni Vastardis, Michael Longaker, Katsuyuki Tanizawa, Norihiro Kanayama, Naoaki Saito, Kang Ting

Journal: J. Clin. Invest.. 2002 Sep;110(6):861-70.

 

Previously, we reported NELL-1 as a novel molecule overexpressed during premature cranial suture closure in patients with craniosynostosis (CS), one of the most common congenital craniofacial deformities. Here we describe the creation and analysis of transgenic mice overexpressing ...

Last Updated: 17 Sep 2002

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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 "Craniosynostosis 1" returned 2 free, full-text review articles on human participants. First 3 results:

The role of NELL-1, a growth factor associated with craniosynostosis, in promoting bone regeneration.
 

Author(s): X Zhang, J Zara, R K Siu, K Ting, C Soo

Journal: J. Dent. Res.. 2010 Sep;89(9):865-78.

 

Efforts to enhance bone regeneration in orthopedic and dental cases have grown steadily for the past decade, in line with increasingly sophisticated regenerative medicine. To meet the unprecedented demand for novel osteospecific growth factors with fewer adverse effects compared with ...

Last Updated: 20 Aug 2010

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De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
 

Author(s): F Speleman, M Craen, J Leroy

Journal: J. Med. Genet.. 1989 Aug;26(8):528-32.

 

A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not ...

Last Updated: 3 Oct 1989

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)
 

Status: Recruiting

Condition Summary: Craniosynostosis; Muenke Syndrome

 

Last Updated: 17 Jun 2015

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Osteogenic Profiling of Tissue From Children With Craniosynostosis
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 28 Jul 2015

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The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery
 

Status: Recruiting

Condition Summary: Craniosynostosis

 

Last Updated: 2 Feb 2015

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