craniosynostosis

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Information
Disease name
craniosynostosis
Disease ID
DOID:2340
Description
"A synostosis that results_in premature fusion located_in skull." [url:http\://en.wikipedia.org/wiki/Craniosynostosis, url:http\://www.mayoclinic.com/health/craniosynostosis/DS00959, url:http\://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm, url:http\://www.nlm.nih.gov/medlineplus/ency/article/001590.htm]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT03025763 Active, not recruiting Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones January 13, 2015 January 31, 2028
NCT02229968 Active, not recruiting Phase 2 Efficacy of Amicar for Children Having Craniofacial Surgery October 2014 March 2025
NCT00367796 Completed Genetic Analysis of Craniosynostosis, Philadelphia Type January 5, 2005 December 23, 2008
NCT00773643 Completed N/A Osteogenic Profiling of Tissue From Children With Craniosynostosis April 2008 February 2018
NCT00912119 Completed Phase 1 Amicar Pharmacokinetics of Children Having Craniofacial Surgery May 2009 October 2011
NCT01898650 Completed N/A MRI for Non-invasive Evaluation of Brain Stress January 30, 2013 July 2017
NCT02188576 Completed Phase 4 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery August 2014 January 2018
NCT00077831 Completed Child and Infant Learning Project September 2001 June 2015
NCT00106977 Completed Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) March 31, 2005 March 23, 2020
NCT02287805 Completed Qualitative and Quantitative Study Which Aims to Determine the Specifics of the Announcement for the Diagnosis of Patients With Craniosynostosis and Their Parents to Better Support Them in Their Care October 2014 July 2016
NCT05911139 Enrolling by invitation Influence of General Anesthesia on the Dynamic Changes in Brain Damage Markers During and After Craniosynostosis Operations in Infancy October 1, 2022 December 31, 2026
NCT04704284 Enrolling by invitation N/A Comparing MRI to CT on Pediatric Craniosynostosis. April 14, 2020 April 2026
NCT03231085 Recruiting N/A Comparison of the Rate of Preoperative Haemoglobin After Administration of Epoetin Alpha Associated With an Oral Medical Supplementation Versus Intravenous Before Surgery of Craniosynostosis at the Child October 31, 2017 December 2024
NCT00722436 Terminated Phase 4 Tranexamic Acid for Craniofacial Surgery July 2008 June 2012
NCT02561728 Withdrawn N/A Hanger Helmet Study July 2016 October 2023
NCT00769847 Withdrawn Endoscopic Treatment for Isolated, Single Suture Craniosynostosis September 2008 September 2013
Exact Synonym (Disease Ontology)
Premature closure of cranial sutures
Disase is a (Disease Ontology)
DOID:11971
Cross Reference ID (Disease Ontology)
GARD:6209
Cross Reference ID (Disease Ontology)
ICD10CM:Q75.0
Cross Reference ID (Disease Ontology)
MESH:D003398
Cross Reference ID (Disease Ontology)
MIM:123100
Cross Reference ID (Disease Ontology)
MIM:182212
Cross Reference ID (Disease Ontology)
MIM:600593
Cross Reference ID (Disease Ontology)
MIM:600775
Cross Reference ID (Disease Ontology)
MIM:604757
Cross Reference ID (Disease Ontology)
MIM:615314
Cross Reference ID (Disease Ontology)
NCI:C84655
Cross Reference ID (Disease Ontology)
ORDO:1531
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:205414007
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0010278
HPO Human Phenotype ID (Human Phenotype Ontology)
HP:0001363
HPO alt_id (Human Phenotype Ontology)
HP:0001365
HPO alt_id (Human Phenotype Ontology)
HP:0004494
HPO alt_id (Human Phenotype Ontology)
HP:0005448
HPO alt_id (Human Phenotype Ontology)
HP:0005457
HPO alt_id (Human Phenotype Ontology)
HP:0005467
HPO alt_id (Human Phenotype Ontology)
HP:0008492
OMIM Phenotype Series Number (OMIM)
PS123100
OrphaNumber from OrphaNet (Orphanet)
1531
MedGen concept unique identifier (MedGen Concept name)
CN241055
MedGen unique identifier (MedGen Concept name)
910776
ICD10 class code (Insert disease from ICD10)
Q75.0
ICD10 preferred id (Insert disease from ICD10)
D0014039