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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]

Clinical features

From HPO
Basal ganglia calcification
MedGen UID:
234651
•Concept ID:
C1389280
•
Pathologic Function
The presence of calcium deposition affecting one or more structures of the basal ganglia.
See: Feature record | Search on this feature
Craniosynostosis syndrome
MedGen UID:
1163
•Concept ID:
C0010278
•
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
See: Feature record | Search on this feature
Hypoplasia of the maxilla
MedGen UID:
66804
•Concept ID:
C0240310
•
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
Prominent supraorbital ridges
MedGen UID:
333982
•Concept ID:
C1842060
•
Finding
Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.
See: Feature record | Search on this feature
Prominent nasal bridge
MedGen UID:
343051
•Concept ID:
C1854113
•
Finding
Anterior positioning of the nasal root in comparison to the usual positioning for age.
See: Feature record | Search on this feature
Proptosis
MedGen UID:
41917
•Concept ID:
C0015300
•
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
See: Feature record | Search on this feature
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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

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
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE.
Jellinger PS, Handelsman Y, Rosenblit PD, Bloomgarden ZT, Fonseca VA, Garber AJ, Grunberger G, Guerin CK, Bell DSH, Mechanick JI, Pessah-Pollack R, Wyne K, Smith D, Brinton EA, Fazio S, Davidson M
Endocr Pract 2017 Apr;23(Suppl 2):1-87. doi: 10.4158/EP171764.APPGL. PMID: 28437620
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

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
Metformin attenuates hyperlipidaemia-associated vascular calcification through anti-ferroptotic effects.
Ma WQ, Sun XJ, Zhu Y, Liu NF
Free Radic Biol Med 2021 Mar;165:229-242. Epub 2021 Jan 26 doi: 10.1016/j.freeradbiomed.2021.01.033. PMID: 33513420
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
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

Diagnosis

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
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
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
In vivo diagnosis of plaque erosion and calcified nodule in patients with acute coronary syndrome by intravascular optical coherence tomography.
Jia H, Abtahian F, Aguirre AD, Lee S, Chia S, Lowe H, Kato K, Yonetsu T, Vergallo R, Hu S, Tian J, Lee H, Park SJ, Jang YS, Raffel OC, Mizuno K, Uemura S, Itoh T, Kakuta T, Choi SY, Dauerman HL, Prasad A, Toma C, McNulty I, Zhang S, Yu B, Fuster V, Narula J, Virmani R, Jang IK
J Am Coll Cardiol 2013 Nov 5;62(19):1748-58. Epub 2013 Jun 27 doi: 10.1016/j.jacc.2013.05.071. PMID: 23810884Free PMC Article

Therapy

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
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
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

Assessment of Coronary Artery Calcium Scoring to Guide Statin Therapy Allocation According to Risk-Enhancing Factors: The Multi-Ethnic Study of Atherosclerosis.
Patel J, Pallazola VA, Dudum R, Greenland P, McEvoy JW, Blumenthal RS, Virani SS, Miedema MD, Shea S, Yeboah J, Abbate A, Hundley WG, Karger AB, Tsai MY, Sathiyakumar V, Ogunmoroti O, Cushman M, Savji N, Liu K, Nasir K, Blaha MJ, Martin SS, Al Rifai M
JAMA Cardiol 2021 Oct 1;6(10):1161-1170. doi: 10.1001/jamacardio.2021.2321. PMID: 34259820Free PMC Article
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
In vivo diagnosis of plaque erosion and calcified nodule in patients with acute coronary syndrome by intravascular optical coherence tomography.
Jia H, Abtahian F, Aguirre AD, Lee S, Chia S, Lowe H, Kato K, Yonetsu T, Vergallo R, Hu S, Tian J, Lee H, Park SJ, Jang YS, Raffel OC, Mizuno K, Uemura S, Itoh T, Kakuta T, Choi SY, Dauerman HL, Prasad A, Toma C, McNulty I, Zhang S, Yu B, Fuster V, Narula J, Virmani R, Jang IK
J Am Coll Cardiol 2013 Nov 5;62(19):1748-58. Epub 2013 Jun 27 doi: 10.1016/j.jacc.2013.05.071. PMID: 23810884Free 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

Clinical prediction guides

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
Fahr's syndrome in Southern Tunisia: A broad spectrum of clinical and etiological features.
El Aoud S, Elleuch M, Charfi N, Hadj Kacem F, Mnif M, Rekike N, Mnif F, Abid M
Tunis Med 2018 Aug-Sep;96(8-9):490-494. PMID: 30430526
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
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P, Crow YJ
Am J Hum Genet 2007 Oct;81(4):713-25. Epub 2007 Sep 4 doi: 10.1086/521373. PMID: 17846997Free PMC Article
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

Ultrasound evaluation of the placenta in healthy and placental syndrome pregnancies: A systematic review.
Schiffer V, van Haren A, De Cubber L, Bons J, Coumans A, van Kuijk SM, Spaanderman M, Al-Nasiry S
Eur J Obstet Gynecol Reprod Biol 2021 Jul;262:45-56. Epub 2021 May 4 doi: 10.1016/j.ejogrb.2021.04.042. PMID: 33984727
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
Systematic Review of Nondrug, Nonsurgical Treatment of Shoulder Conditions.
Hawk C, Minkalis AL, Khorsan R, Daniels CJ, Homack D, Gliedt JA, Hartman JA, Bhalerao S
J Manipulative Physiol Ther 2017 Jun;40(5):293-319. Epub 2017 May 26 doi: 10.1016/j.jmpt.2017.04.001. PMID: 28554433
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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