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Craniosynostosis-intracranial calcifications syndrome

MedGen UID:
333981
•Concept ID:
C1842058
•
Disease or Syndrome
Synonym: Craniosynostosis, calcification of basal ganglia, and facial dysmorphism
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0012035
OMIM®: 608432
Orphanet: ORPHA52054

Definition

Craniosynostosis-intracranial calcifications syndrome is a form of syndromic craniosynostosis characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniosynostosis-intracranial calcifications syndrome
Follow this link to review classifications for Craniosynostosis-intracranial calcifications syndrome in Orphanet.

Professional guidelines

PubMed

Management of noncytotoxic extravasation injuries: A focused update on medications, treatment strategies, and peripheral administration of vasopressors and hypertonic saline.
Stefanos SS, Kiser TH, MacLaren R, Mueller SW, Reynolds PM
Pharmacotherapy 2023 Apr;43(4):321-337. Epub 2023 Apr 1 doi: 10.1002/phar.2794. PMID: 36938775
Parathyroidectomy in the Management of Secondary Hyperparathyroidism.
Lau WL, Obi Y, Kalantar-Zadeh K
Clin J Am Soc Nephrol 2018 Jun 7;13(6):952-961. Epub 2018 Mar 9 doi: 10.2215/CJN.10390917. PMID: 29523679Free PMC Article
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Recent clinical studies

Etiology

The 2023 ACR/EULAR classification criteria for calcium pyrophosphate deposition disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, Fitzgerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andrés M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Ann Rheum Dis 2023 Oct;82(10):1248-1257. Epub 2023 Jul 26 doi: 10.1136/ard-2023-224575. PMID: 37495237Free PMC Article
The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, FitzGerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andres M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Arthritis Rheumatol 2023 Oct;75(10):1703-1713. Epub 2023 Jul 26 doi: 10.1002/art.42619. PMID: 37494275Free PMC Article
Eruptive Calcified Nodules as a Potential Mechanism of Acute Coronary Thrombosis and Sudden Death.
Torii S, Sato Y, Otsuka F, Kolodgie FD, Jinnouchi H, Sakamoto A, Park J, Yahagi K, Sakakura K, Cornelissen A, Kawakami R, Mori M, Kawai K, Amoa F, Guo L, Kutyna M, Fernandez R, Romero ME, Fowler D, Finn AV, Virmani R
J Am Coll Cardiol 2021 Apr 6;77(13):1599-1611. doi: 10.1016/j.jacc.2021.02.016. PMID: 33795033
Intracranial calcifications in childhood: Part 2.
Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A
Pediatr Radiol 2020 Sep;50(10):1448-1475. Epub 2020 Jul 8 doi: 10.1007/s00247-020-04716-y. PMID: 32642802
Calcific aortic stenosis.
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article

Diagnosis

The 2023 ACR/EULAR classification criteria for calcium pyrophosphate deposition disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, Fitzgerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andrés M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Ann Rheum Dis 2023 Oct;82(10):1248-1257. Epub 2023 Jul 26 doi: 10.1136/ard-2023-224575. PMID: 37495237Free PMC Article
The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, FitzGerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andres M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Arthritis Rheumatol 2023 Oct;75(10):1703-1713. Epub 2023 Jul 26 doi: 10.1002/art.42619. PMID: 37494275Free PMC Article
Intracranial calcifications in childhood: Part 1.
Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A
Pediatr Radiol 2020 Sep;50(10):1424-1447. Epub 2020 Jul 30 doi: 10.1007/s00247-020-04721-1. PMID: 32734340
Calcific aortic stenosis.
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article
Fahr's syndrome: literature review of current evidence.
Saleem S, Aslam HM, Anwar M, Anwar S, Saleem M, Saleem A, Rehmani MA
Orphanet J Rare Dis 2013 Oct 8;8:156. doi: 10.1186/1750-1172-8-156. PMID: 24098952Free PMC Article

Therapy

Intravenous Immunoglobulin in Idiopathic Inflammatory Myopathies: a Practical Guide for Clinical Use.
Gandiga PC, Ghetie D, Anderson E, Aggrawal R
Curr Rheumatol Rep 2023 Aug;25(8):152-168. Epub 2023 Jun 1 doi: 10.1007/s11926-023-01105-w. PMID: 37261663
Identification of Immune-Associated Genes in Diagnosing Aortic Valve Calcification With Metabolic Syndrome by Integrated Bioinformatics Analysis and Machine Learning.
Zhou Y, Shi W, Zhao D, Xiao S, Wang K, Wang J
Front Immunol 2022;13:937886. Epub 2022 Jul 4 doi: 10.3389/fimmu.2022.937886. PMID: 35865542Free PMC Article
Parathyroidectomy in the Management of Secondary Hyperparathyroidism.
Lau WL, Obi Y, Kalantar-Zadeh K
Clin J Am Soc Nephrol 2018 Jun 7;13(6):952-961. Epub 2018 Mar 9 doi: 10.2215/CJN.10390917. PMID: 29523679Free PMC Article
Calcific aortic stenosis.
Lindman BR, Clavel MA, Mathieu P, Iung B, Lancellotti P, Otto CM, Pibarot P
Nat Rev Dis Primers 2016 Mar 3;2:16006. doi: 10.1038/nrdp.2016.6. PMID: 27188578Free PMC Article
2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC).
Erbel R, Aboyans V, Boileau C, Bossone E, Bartolomeo RD, Eggebrecht H, Evangelista A, Falk V, Frank H, Gaemperli O, Grabenwöger M, Haverich A, Iung B, Manolis AJ, Meijboom F, Nienaber CA, Roffi M, Rousseau H, Sechtem U, Sirnes PA, Allmen RS, Vrints CJ; ESC Committee for Practice Guidelines
Eur Heart J 2014 Nov 1;35(41):2873-926. Epub 2014 Aug 29 doi: 10.1093/eurheartj/ehu281. PMID: 25173340

Prognosis

Cardiac and Vascular Causes of Syncope and Atherosclerosis.
da Silva RMFL, Brugada J
Curr Cardiol Rep 2022 Oct;24(10):1241-1249. Epub 2022 Aug 1 doi: 10.1007/s11886-022-01757-7. PMID: 35913673
Vascular pathologies in chronic kidney disease: pathophysiological mechanisms and novel therapeutic approaches.
Düsing P, Zietzer A, Goody PR, Hosen MR, Kurts C, Nickenig G, Jansen F
J Mol Med (Berl) 2021 Mar;99(3):335-348. Epub 2021 Jan 22 doi: 10.1007/s00109-021-02037-7. PMID: 33481059Free PMC Article
Aicardi-Goutieres syndrome.
Orcesi S, La Piana R, Fazzi E
Br Med Bull 2009;89:183-201. Epub 2009 Jan 7 doi: 10.1093/bmb/ldn049. PMID: 19129251
Aicardi-Goutières syndrome (AGS).
Stephenson JB
Eur J Paediatr Neurol 2008 Sep;12(5):355-8. Epub 2008 Mar 14 doi: 10.1016/j.ejpn.2007.11.010. PMID: 18343173
Calciphylaxis--a topical overview.
Arseculeratne G, Evans AT, Morley SM
J Eur Acad Dermatol Venereol 2006 May;20(5):493-502. doi: 10.1111/j.1468-3083.2006.01506.x. PMID: 16684274

Clinical prediction guides

The 2023 ACR/EULAR classification criteria for calcium pyrophosphate deposition disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, Fitzgerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andrés M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Ann Rheum Dis 2023 Oct;82(10):1248-1257. Epub 2023 Jul 26 doi: 10.1136/ard-2023-224575. PMID: 37495237Free PMC Article
The 2023 ACR/EULAR Classification Criteria for Calcium Pyrophosphate Deposition Disease.
Abhishek A, Tedeschi SK, Pascart T, Latourte A, Dalbeth N, Neogi T, Fuller A, Rosenthal A, Becce F, Bardin T, Ea HK, Filippou G, FitzGerald J, Iagnocco A, Lioté F, McCarthy GM, Ramonda R, Richette P, Sivera F, Andres M, Cipolletta E, Doherty M, Pascual E, Perez-Ruiz F, So A, Jansen TL, Kohler MJ, Stamp LK, Yinh J, Adinolfi A, Arad U, Aung T, Benillouche E, Bortoluzzi A, Dau J, Maningding E, Fang MA, Figus FA, Filippucci E, Haslett J, Janssen M, Kaldas M, Kimoto M, Leamy K, Navarro GM, Sarzi-Puttini P, Scirè C, Silvagni E, Sirotti S, Stack JR, Truong L, Xie C, Yokose C, Hendry AM, Terkeltaub R, Taylor WJ, Choi HK
Arthritis Rheumatol 2023 Oct;75(10):1703-1713. Epub 2023 Jul 26 doi: 10.1002/art.42619. PMID: 37494275Free PMC Article
Calcium deposition within coronary atherosclerotic lesion: Implications for plaque stability.
Jinnouchi H, Sato Y, Sakamoto A, Cornelissen A, Mori M, Kawakami R, Gadhoke NV, Kolodgie FD, Virmani R, Finn AV
Atherosclerosis 2020 Aug;306:85-95. Epub 2020 Jun 14 doi: 10.1016/j.atherosclerosis.2020.05.017. PMID: 32654790
Aicardi-Goutières syndrome (AGS).
Stephenson JB
Eur J Paediatr Neurol 2008 Sep;12(5):355-8. Epub 2008 Mar 14 doi: 10.1016/j.ejpn.2007.11.010. PMID: 18343173
Calciphylaxis--a topical overview.
Arseculeratne G, Evans AT, Morley SM
J Eur Acad Dermatol Venereol 2006 May;20(5):493-502. doi: 10.1111/j.1468-3083.2006.01506.x. PMID: 16684274

Recent systematic reviews

Short-Term DAPT and DAPT De-Escalation Strategies for Patients With Acute Coronary Syndromes: A Systematic Review and Network Meta-Analysis.
Kuno T, Watanabe A, Shoji S, Fujisaki T, Ueyama H, Takagi H, Deharo P, Cuisset T, Bangalore S, Mehran R, Stone GW, Kohsaka S, Bhatt DL
Circ Cardiovasc Interv 2023 Sep;16(9):e013242. Epub 2023 Aug 23 doi: 10.1161/CIRCINTERVENTIONS.123.013242. PMID: 37609850
Triglyceride-glucose index and coronary artery disease: a systematic review and meta-analysis of risk, severity, and prognosis.
Liang S, Wang C, Zhang J, Liu Z, Bai Y, Chen Z, Huang H, He Y
Cardiovasc Diabetol 2023 Jul 6;22(1):170. doi: 10.1186/s12933-023-01906-4. PMID: 37415168Free PMC Article
Congenital Zika syndrome: A systematic review.
Freitas DA, Souza-Santos R, Carvalho LMA, Barros WB, Neves LM, Brasil P, Wakimoto MD
PLoS One 2020;15(12):e0242367. Epub 2020 Dec 15 doi: 10.1371/journal.pone.0242367. PMID: 33320867Free PMC Article
Dual Antiplatelet Therapy After Percutaneous Coronary Intervention and Drug-Eluting Stents: A Systematic Review and Network Meta-Analysis.
Khan SU, Singh M, Valavoor S, Khan MU, Lone AN, Khan MZ, Khan MS, Mani P, Kapadia SR, Michos ED, Stone GW, Kalra A, Bhatt DL
Circulation 2020 Oct 13;142(15):1425-1436. Epub 2020 Aug 3 doi: 10.1161/CIRCULATIONAHA.120.046308. PMID: 32795096Free PMC Article
Electrotherapy modalities for rotator cuff disease.
Page MJ, Green S, Mrocki MA, Surace SJ, Deitch J, McBain B, Lyttle N, Buchbinder R
Cochrane Database Syst Rev 2016 Jun 10;2016(6):CD012225. doi: 10.1002/14651858.CD012225. PMID: 27283591Free PMC Article

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