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Craniosynostosis 7(CRS7)

MedGen UID:
1392447
•Concept ID:
C4479496
•
Disease or Syndrome
Synonyms: CRANIOSYNOSTOSIS 7, DIGENIC; CRS7; CRS7, DIGENIC
 
Gene (location): SMAD6 (15q22.31)
 
Monarch Initiative: MONDO:0044315
OMIM®: 617439

Definition

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 (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

Clinical features

From HPO
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Neurodevelopmental delay
MedGen UID:
868344
•Concept ID:
C4022738
•
Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.
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
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Professional guidelines

PubMed

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A, Gos M, Obersztyn E
J Appl Genet 2018 May;59(2):133-147. Epub 2018 Feb 1 doi: 10.1007/s13353-017-0423-4. PMID: 29392564
Management of craniofacial abnormalities.
Woolley EJ, Richardson D, May P
Hosp Med 2005 Jul;66(7):405-10. doi: 10.12968/hmed.2005.66.7.18385. PMID: 16025797

Recent clinical studies

Etiology

Positional Plagiocephaly and Craniosynostosis.
Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797
Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.
Kilipiris EG, Horn F, Kolnikova M, Ochoa JV, Matuskova O, Jelovac D, Stebel A
Cleft Palate Craniofac J 2023 May;60(5):562-568. Epub 2022 Jan 19 doi: 10.1177/10556656221074214. PMID: 35043707Free PMC Article
Craniosynostosis is a feature of CHD7-related CHARGE syndrome.
De Luca C, Picone S, Cassina M, Marziali S, Morlino S, Camerota L, Tamburrini G, Castori M, Paolillo P, Salviati L, Brancati F
Am J Med Genet A 2021 Jul;185(7):2160-2163. Epub 2021 Apr 12 doi: 10.1002/ajmg.a.62208. PMID: 33844462
CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.
Legare JM, Pauli RM, Hecht JT, Bober MB, Smid CJ, Modaff P, Little ME, Rodriguez-Buritica DF, Serna ME, Alade AY, Liu C, Hoover-Fong JE, Hashmi SS
Am J Med Genet A 2021 Apr;185(4):1168-1174. Epub 2021 Jan 26 doi: 10.1002/ajmg.a.62096. PMID: 33496070
The variable position of the ear in lambdoid synostosis.
Koshy JC, Chike-Obi CJ, Hatef DA, Sharabi SE, Momoh AO, Dauser RC, Hollier LH Jr
Ann Plast Surg 2011 Jan;66(1):65-8. doi: 10.1097/SAP.0b013e3181d6e442. PMID: 20948412

Diagnosis

Positional Plagiocephaly and Craniosynostosis.
Santiago GS, Santiago CN, Chwa ES, Purnell CA
Pediatr Ann 2023 Jan;52(1):e10-e17. Epub 2023 Jan 1 doi: 10.3928/19382359-20221114-03. PMID: 36625797
Craniosynostosis and ENT.
Couloigner V, Ayari Khalfallah S
Neurochirurgie 2019 Nov;65(5):318-321. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.015. PMID: 31568777
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Management of craniofacial abnormalities.
Woolley EJ, Richardson D, May P
Hosp Med 2005 Jul;66(7):405-10. doi: 10.12968/hmed.2005.66.7.18385. PMID: 16025797
Saethre-Chotzen syndrome.
Reardon W, Winter RM
J Med Genet 1994 May;31(5):393-6. doi: 10.1136/jmg.31.5.393. PMID: 8064818Free PMC Article

Therapy

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Use of a Midliner Positioning System for Prevention of Dolichocephaly in Preterm Infants.
McCarty DB, OʼDonnell S, Goldstein RF, Smith PB, Fisher K, Malcolm WF
Pediatr Phys Ther 2018 Apr;30(2):126-134. doi: 10.1097/PEP.0000000000000487. PMID: 29579000
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Ovarian dysgerminoma and Apert syndrome.
Rouzier C, Soler C, Hofman P, Brennetot C, Bieth E, Pedeutour F
Pediatr Blood Cancer 2008 Mar;50(3):696-8. doi: 10.1002/pbc.21156. PMID: 17243131
Syndromology's message for craniofacial biology.
Cohen MM Jr
J Maxillofac Surg 1979 May;7(2):89-109. doi: 10.1016/s0301-0503(79)80021-1. PMID: 287758

Prognosis

Parental Satisfaction from Telemedicine in the Follow-up of Children Operated for Craniosynostosis during COVID-19 Pandemic.
Kilipiris EG, Horn F, Kolnikova M, Ochoa JV, Matuskova O, Jelovac D, Stebel A
Cleft Palate Craniofac J 2023 May;60(5):562-568. Epub 2022 Jan 19 doi: 10.1177/10556656221074214. PMID: 35043707Free PMC Article
Abnormal biorbital angle in children with infantile exotropia.
Tsukui M, Yagasaki T, Yokoyama Y
Jpn J Ophthalmol 2022 Jan;66(1):81-86. Epub 2021 Oct 19 doi: 10.1007/s10384-021-00881-1. PMID: 34665373
A Patient With Pansynostosis and Williams-Beuren Syndrome.
Kansy K, Freudlsperger C, Hoffmann J, Engel M
J Craniofac Surg 2016 Jan;27(1):e4-6. doi: 10.1097/SCS.0000000000002207. PMID: 26703032
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article
Distraction osteogenesis in the hand.
Pensler JM, Carroll NC, Cheng LF
Plast Reconstr Surg 1998 Jul;102(1):92-5. doi: 10.1097/00006534-199807000-00014. PMID: 9655412

Clinical prediction guides

Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P
Ultrasound Obstet Gynecol 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. PMID: 34358384Free PMC Article
Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.
Tiberio F, Parolini O, Lattanzi W
Genes (Basel) 2021 Jul 14;12(7) doi: 10.3390/genes12071073. PMID: 34356089Free PMC Article
Craniosynostosis and ENT.
Couloigner V, Ayari Khalfallah S
Neurochirurgie 2019 Nov;65(5):318-321. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.015. PMID: 31568777
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
Helmet therapy in infants with positional skull deformation: randomised controlled trial.
van Wijk RM, van Vlimmeren LA, Groothuis-Oudshoorn CG, Van der Ploeg CP, Ijzerman MJ, Boere-Boonekamp MM
BMJ 2014 May 1;348:g2741. doi: 10.1136/bmj.g2741. PMID: 24784879Free PMC Article

Recent systematic reviews

Surgical Management in Isolated Squamosal Craniosynostosis: A Systematic Review.
Fallahian F, Meyer A, Tadisina KK, Lin AY
Ann Plast Surg 2023 Oct 1;91(4):493-496. Epub 2023 Aug 12 doi: 10.1097/SAP.0000000000003642. PMID: 37553899
Global Epidemiology of Craniosynostosis: A Systematic Review and Meta-Analysis.
Shlobin NA, Baticulon RE, Ortega CA, Du L, Bonfield CM, Wray A, Forrest CR, Dewan MC
World Neurosurg 2022 Aug;164:413-423.e3. Epub 2022 May 27 doi: 10.1016/j.wneu.2022.05.093. PMID: 35636659
Role of tranexamic acid in craniosynostosis surgery: Systematic review and meta-analysis.
Zapata-Copete JA, Gómez-Ospina JC, García-Perdomo HA, Caycedo DJ
J Plast Reconstr Aesthet Surg 2022 Apr;75(4):1389-1398. Epub 2021 Nov 28 doi: 10.1016/j.bjps.2021.11.064. PMID: 34949570
Tranexamic Acid in Craniosynostosis Surgery: A Systematic Review and Meta-Analysis.
Varidel A, Marucci D
J Craniofac Surg 2022 Jan-Feb 01;33(1):146-150. doi: 10.1097/SCS.0000000000008123. PMID: 34593743
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.
Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N
Eur Arch Otorhinolaryngol 2019 Jun;276(6):1555-1560. Epub 2019 Apr 17 doi: 10.1007/s00405-019-05427-3. PMID: 30997567

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