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Craniosynostosis 5, susceptibility to(CRS5)

MedGen UID:
816149
Concept ID:
C3809819
Finding
Synonym: CRS5
 
Gene (location): ALX4 (11p11.2)
 
Monarch Initiative: MONDO:0014232
OMIM®: 615529

Definition

Premature fusion of the various sutures in the human neurocranium (skull vault and base) is defined as craniosynostosis (CRS). Clinical consequences include abnormal head shape and increased intracranial pressure, which may result in neurologic symptoms, developmental delay, and hearing or vision problems. Approximately 80% of cases are classified as nonsyndromic craniosynostosis and present as isolated suture fusion with no other associated anomalies. Sagittal suture fusion is the most common form of isolated craniosynostosis, accounting for 40 to 58% of all isolated cases (summary by Yagnik et al., 2012). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). [from OMIM]

Clinical features

From HPO
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.

Recent clinical studies

Etiology

Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P
Am J Hum Genet 2023 May 4;110(5):846-862. Epub 2023 Apr 21 doi: 10.1016/j.ajhg.2023.03.017. PMID: 37086723Free 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
O'Brien JL, Langlois PH, Lawson CC, Scheuerle A, Rocheleau CM, Waters MA, Symanski E, Romitti PA, Agopian AJ, Lupo PJ; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):55-60. Epub 2015 Jun 2 doi: 10.1002/bdra.23389. PMID: 26033890Free PMC Article
Agochukwu NB, Solomon BD, Doherty ES, Muenke M
J Craniofac Surg 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. PMID: 22565872Free PMC Article
Cunningham ML, Horst JA, Rieder MJ, Hing AV, Stanaway IB, Park SS, Samudrala R, Speltz ML
Am J Med Genet A 2011 Jan;155A(1):91-7. doi: 10.1002/ajmg.a.33781. PMID: 21204214Free PMC Article

Diagnosis

Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie 2019 Nov;65(5):196-201. Epub 2019 Oct 9 doi: 10.1016/j.neuchi.2019.10.003. PMID: 31605683
Bedoukian E, Copenheaver D, Bale S, Deardorff M
Am J Med Genet A 2018 May;176(5):1249-1252. doi: 10.1002/ajmg.a.38686. PMID: 29681100
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
Byun IH, Hong JW, Hussein MA, Kim YO
J Craniomaxillofac Surg 2018 Apr;46(4):674-678. Epub 2018 Feb 21 doi: 10.1016/j.jcms.2018.02.008. PMID: 29550217
Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA
Plast Reconstr Surg 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee. PMID: 26910679Free PMC Article

Therapy

O'Brien JL, Langlois PH, Lawson CC, Scheuerle A, Rocheleau CM, Waters MA, Symanski E, Romitti PA, Agopian AJ, Lupo PJ; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):55-60. Epub 2015 Jun 2 doi: 10.1002/bdra.23389. PMID: 26033890Free PMC Article
Masri A, Badran E, Hamamy H, Assaf A, Al-Qudah AA
Clin Neurol Neurosurg 2008 Apr;110(4):352-6. Epub 2008 Feb 4 doi: 10.1016/j.clineuro.2007.12.013. PMID: 18249488

Prognosis

Kitabata R, Sakamoto Y, Miwa T, Yoshida K, Kishi K
J Craniofac Surg 2020 Jul-Aug;31(5):e475-e477. doi: 10.1097/SCS.0000000000006441. PMID: 32282681
Armand T, Schaefer E, Di Rocco F, Edery P, Collet C, Rossi M
Neurochirurgie 2019 Nov;65(5):196-201. Epub 2019 Oct 9 doi: 10.1016/j.neuchi.2019.10.003. PMID: 31605683
Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA
Plast Reconstr Surg 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee. PMID: 26910679Free PMC Article
Agochukwu NB, Solomon BD, Doherty ES, Muenke M
J Craniofac Surg 2012 May;23(3):664-8. doi: 10.1097/SCS.0b013e31824db8bb. PMID: 22565872Free PMC Article
Masri A, Badran E, Hamamy H, Assaf A, Al-Qudah AA
Clin Neurol Neurosurg 2008 Apr;110(4):352-6. Epub 2008 Feb 4 doi: 10.1016/j.clineuro.2007.12.013. PMID: 18249488

Clinical prediction guides

He 何璇 XA, Berenson A, Bernard M, Weber C, Cook LE, Visel A, Fuxman Bass JI, Fisher S
Hum Mol Genet 2024 May 4;33(10):837-849. doi: 10.1093/hmg/ddad182. PMID: 37883470Free PMC Article
Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P
Am J Hum Genet 2023 May 4;110(5):846-862. Epub 2023 Apr 21 doi: 10.1016/j.ajhg.2023.03.017. PMID: 37086723Free PMC Article
Byun IH, Hong JW, Hussein MA, Kim YO
J Craniomaxillofac Surg 2018 Apr;46(4):674-678. Epub 2018 Feb 21 doi: 10.1016/j.jcms.2018.02.008. PMID: 29550217
Ye X, Guilmatre A, Reva B, Peter I, Heuzé Y, Richtsmeier JT, Fox DJ, Goedken RJ, Jabs EW, Romitti PA
Plast Reconstr Surg 2016 Mar;137(3):952-961. doi: 10.1097/01.prs.0000479978.75545.ee. PMID: 26910679Free PMC Article
O'Brien JL, Langlois PH, Lawson CC, Scheuerle A, Rocheleau CM, Waters MA, Symanski E, Romitti PA, Agopian AJ, Lupo PJ; National Birth Defects Prevention Study
Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):55-60. Epub 2015 Jun 2 doi: 10.1002/bdra.23389. PMID: 26033890Free PMC Article

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