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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.
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.
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.

Professional guidelines

PubMed

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
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
Tadisina KK, Lin AY
Ann Plast Surg 2017 Nov;79(5):458-466. doi: 10.1097/SAP.0000000000001170. PMID: 28953518

Recent clinical studies

Etiology

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
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
Ferri J, Schlund M, Touzet-Roumazeille S
J Craniofac Surg 2021 Jan-Feb 01;32(1):141-148. doi: 10.1097/SCS.0000000000007154. PMID: 33027175
Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344
Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-961. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124

Diagnosis

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
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
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
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724
Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344

Therapy

Zubovic E, Skolnick GB, AuBuchon JD, Waters EA, Snyder-Warwick AK, Patel KB
Cleft Palate Craniofac J 2023 Jul;60(7):833-842. Epub 2022 Feb 28 doi: 10.1177/10556656221083082. PMID: 35226537
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
Steinberg JP, Rawlani R, Humphries LS, Rawlani V, Vicari FA
Plast Reconstr Surg 2015 Mar;135(3):833-842. doi: 10.1097/PRS.0000000000000955. PMID: 25415272
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
Meier PM, Guzman R, Erb TO
Paediatr Anaesth 2014 Jul;24(7):668-77. Epub 2014 Apr 12 doi: 10.1111/pan.12405. PMID: 24725264

Prognosis

Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V
J Pediatr Endocrinol Metab 2021 Sep 27;34(9):1105-1113. Epub 2021 Jun 21 doi: 10.1515/jpem-2021-0042. PMID: 34147045
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
Zhao X, Qu Z, Tickner J, Xu J, Dai K, Zhang X
Cytokine Growth Factor Rev 2014 Feb;25(1):35-44. Epub 2013 Dec 25 doi: 10.1016/j.cytogfr.2013.12.010. PMID: 24411565
Czerwinski M, Kolar JC, Fearon JA
Plast Reconstr Surg 2011 Oct;128(4):955-961. doi: 10.1097/PRS.0b013e3182268ca6. PMID: 21681124

Clinical prediction guides

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
Parenti I, Lehalle D, Nava C, Torti E, Leitão E, Person R, Mizuguchi T, Matsumoto N, Kato M, Nakamura K, de Man SA, Cope H, Shashi V; Undiagnosed Diseases Network, Friedman J, Joset P, Steindl K, Rauch A, Muffels I, van Hasselt PM, Petit F, Smol T, Le Guyader G, Bilan F, Sorlin A, Vitobello A, Philippe C, van de Laar IMBH, van Slegtenhorst MA, Campeau PM, Au PYB, Nakashima M, Saitsu H, Yamamoto T, Nomura Y, Louie RJ, Lyons MJ, Dobson A, Plomp AS, Motazacker MM, Kaiser FJ, Timberlake AT, Fuchs SA, Depienne C, Mignot C
Hum Genet 2021 Jul;140(7):1109-1120. Epub 2021 May 4 doi: 10.1007/s00439-021-02283-2. PMID: 33944996Free PMC Article
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
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
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

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
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
Varidel A, Marucci D
J Craniofac Surg 2022 Jan-Feb 01;33(1):146-150. doi: 10.1097/SCS.0000000000008123. PMID: 34593743
Whittall I, Lambert WA, Moote DJ, Bookland MJ, Martin JE, Hughes CD, Hersh DS
Childs Nerv Syst 2021 Dec;37(12):3705-3714. Epub 2021 Oct 5 doi: 10.1007/s00381-021-05301-w. PMID: 34611761
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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