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Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

MedGen UID:
923699
•Concept ID:
C3267187
•
Disease or Syndrome
Synonyms: Berant syndrome; Capra DeMarco syndrome; Capra-DeMarco syndrome; Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis; craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome; Familial scaphocephaly with radioulnar synostosis syndrome; familial scaphocephaly-radioulnar synostosis syndrome; Familial scaphocephaly-radioulnar synostosis syndrome
SNOMED CT: Capra DeMarco syndrome (720815000); Familial scaphocephaly with radioulnar synostosis syndrome (720815000); Berant syndrome (720815000); Craniosynostosis, hydrocephalus, Arnold Chiari I malformation, radioulnar synostosis (720815000)
 
Monarch Initiative: MONDO:0015751
Orphanet: ORPHA171839

Definition

Syndrome with characteristics of sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism. The syndrome was described in two brothers from a non-consanguineous family. No causative mutation has been identified so far. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCraniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Professional guidelines

PubMed

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses.
Agochukwu NB, Solomon BD, Muenke M
Childs Nerv Syst 2012 Sep;28(9):1447-63. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1756-2. PMID: 22872262Free PMC Article

Recent clinical studies

Etiology

Apert Syndrome Type III Hand: Prevalence and Outcomes.
Raposo-Amaral CE, Medeiros LL, Raposo-Amaral CA
J Craniofac Surg 2023 Jun 1;34(4):1170-1173. Epub 2022 Nov 1 doi: 10.1097/SCS.0000000000009107. PMID: 36730868
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
Muenke syndrome: Medical and surgical comorbidities and long-term management.
Murali CN, McDonald-McGinn DM, Wenger TL, McDougall C, Stroup BM, Sheppard SE, Taylor J, Bartlett SP, Bhoj EJ, Zackai EH, Santani A
Am J Med Genet A 2019 Aug;179(8):1442-1450. Epub 2019 May 20 doi: 10.1002/ajmg.a.61199. PMID: 31111620Free PMC Article
Polydactyly: phenotypes, genetics and classification.
Malik S
Clin Genet 2014 Mar;85(3):203-12. Epub 2013 Oct 18 doi: 10.1111/cge.12276. PMID: 24020795
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714

Diagnosis

Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Dissecting the molecular basis of human interneuron migration in forebrain assembloids from Timothy syndrome.
Birey F, Li MY, Gordon A, Thete MV, Valencia AM, Revah O, Paşca AM, Geschwind DH, Paşca SP
Cell Stem Cell 2022 Feb 3;29(2):248-264.e7. Epub 2022 Jan 5 doi: 10.1016/j.stem.2021.11.011. PMID: 34990580
Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Choanal Atresia and Craniosynostosis: Development and Disease.
Lesciotto KM, Heuzé Y, Jabs EW, Bernstein JM, Richtsmeier JT
Plast Reconstr Surg 2018 Jan;141(1):156-168. doi: 10.1097/PRS.0000000000003928. PMID: 29280877Free PMC Article

Therapy

Antisense oligonucleotide therapeutic approach for Timothy syndrome.
Chen X, Birey F, Li MY, Revah O, Levy R, Thete MV, Reis N, Kaganovsky K, Onesto M, Sakai N, Hudacova Z, Hao J, Meng X, Nishino S, Huguenard J, Pașca SP
Nature 2024 Apr;628(8009):818-825. Epub 2024 Apr 24 doi: 10.1038/s41586-024-07310-6. PMID: 38658687Free PMC Article
siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
Fang Z, Zhao Z, Eapen V, Clarke RA
Genes (Basel) 2021 Aug 23;12(8) doi: 10.3390/genes12081290. PMID: 34440463Free PMC Article
Craniosynostosis Develops in Half of Infants Treated for Hydrocephalus with a Ventriculoperitoneal Shunt.
Bryant JR, Mantilla-Rivas E, Keating RF, Rana MS, Manrique M, Oh AK, Magge SN, Murnick J, Oluigbo CO, Myseros JS, Rogers GF
Plast Reconstr Surg 2021 Jun 1;147(6):1390-1399. doi: 10.1097/PRS.0000000000007988. PMID: 34019511
Complications Due to Cranial Distraction for Craniosynostosis.
Noto M, Imai K, Masuoka T, Sakahara D, Kunihiro N
J Craniofac Surg 2021 Jan-Feb 01;32(1):322-324. doi: 10.1097/SCS.0000000000007151. PMID: 33156168
Acne and systemic disease.
Lolis MS, Bowe WP, Shalita AR
Med Clin North Am 2009 Nov;93(6):1161-81. doi: 10.1016/j.mcna.2009.08.008. PMID: 19932324

Prognosis

Functional and morphological changes in hypoplasic posterior fossa.
Bianchi F, Benato A, Frassanito P, Tamburrini G, Massimi L
Childs Nerv Syst 2021 Oct;37(10):3093-3104. Epub 2021 Jun 25 doi: 10.1007/s00381-021-05193-w. PMID: 34169386Free PMC Article
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714

Clinical prediction guides

Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Functional and morphological changes in hypoplasic posterior fossa.
Bianchi F, Benato A, Frassanito P, Tamburrini G, Massimi L
Childs Nerv Syst 2021 Oct;37(10):3093-3104. Epub 2021 Jun 25 doi: 10.1007/s00381-021-05193-w. PMID: 34169386Free PMC Article
Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Management of craniosynostoses.
Renier D, Lajeunie E, Arnaud E, Marchac D
Childs Nerv Syst 2000 Nov;16(10-11):645-58. doi: 10.1007/s003810000320. PMID: 11151714

Recent systematic reviews

Nervous system involvement in Pfeiffer syndrome.
Mavridis IN, Rodrigues D
Childs Nerv Syst 2021 Feb;37(2):367-374. Epub 2020 Oct 20 doi: 10.1007/s00381-020-04934-7. PMID: 33083874
Dental approach for Apert syndrome in children: a systematic review.
López-Estudillo AS, Rosales-Bérber MA, Ruiz-Rodríguez S, Pozos-Guillén A, Noyola-Frías MÁ, Garrocho-Rangel A
Med Oral Patol Oral Cir Bucal 2017 Nov 1;22(6):e660-e668. doi: 10.4317/medoral.21628. PMID: 29053644Free PMC Article
Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.
Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204
Morphological, functional and neurological outcomes of craniectomy versus cranial vault remodeling for isolated nonsyndromic synostosis of the sagittal suture: a systematic review.
Thwin M, Schultz TJ, Anderson PJ
JBI Database System Rev Implement Rep 2015 Sep;13(9):309-68. doi: 10.11124/jbisrir-2015-2470. PMID: 26470674
Surgical correction for unilateral lambdoid synostosis: a systematic review.
Al-Jabri T, Eccles S
J Craniofac Surg 2014 Jul;25(4):1266-72. doi: 10.1097/SCS.0000000000000961. PMID: 24978452

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