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Acrocephalosyndactyly

MedGen UID:
267602
Concept ID:
C1510455
Congenital Abnormality
Synonyms: Acrocephalosyndactylia; Acrocephalosyndactylias; Kurczynski Casperson Syndrome; Syndrome, Kurczynski Casperson
SNOMED CT: Acrocephalosyndactyly (268262006)
 
Monarch Initiative: MONDO:0019796

Definition

A genetic disorder characterized by craniosynostosis and fusion of the fingers and toes. [from NCI]

Term Hierarchy

Professional guidelines

PubMed

Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
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
Kaplan LC
Clin Plast Surg 1991 Apr;18(2):217-25. PMID: 2065483

Recent clinical studies

Etiology

Vimercati A, Olivieri C, Dellino M, Gentile M, Tinelli R, Cicinelli E
J Matern Fetal Neonatal Med 2022 Dec;35(25):7840-7843. Epub 2021 Jun 28 doi: 10.1080/14767058.2021.1937984. PMID: 34182859
Winge MI, Røkkum M
J Pediatr Orthop 2021 May-Jun 01;41(5):312-318. doi: 10.1097/BPO.0000000000001785. PMID: 33710128
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
Bruce WJ, Chang V, Joyce CJ, Cobb AN, Maduekwe UI, Patel PA
Cleft Palate Craniofac J 2018 May;55(5):649-654. Epub 2017 Dec 14 doi: 10.1177/1055665617725215. PMID: 29665342Free PMC Article
Levy S, Fayez I, Taguchi N, Han JY, Aiello J, Matsui D, Moretti M, Koren G, Ito S
Bone 2009 Mar;44(3):428-30. Epub 2008 Nov 14 doi: 10.1016/j.bone.2008.11.001. PMID: 19059370

Diagnosis

Shakir S, Birgfeld CB
Oral Maxillofac Surg Clin North Am 2022 Aug;34(3):443-458. Epub 2022 Jul 2 doi: 10.1016/j.coms.2022.01.006. PMID: 35787825
de Ângelis Ramos D, Matushita H, Cardeal DD, Nascimento CNG, Teixeira MJ
Childs Nerv Syst 2019 Mar;35(3):565-567. Epub 2019 Jan 14 doi: 10.1007/s00381-019-04050-1. PMID: 30643948
Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
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
Visuthikosol V, Hompuem T
Ann Plast Surg 1988 Nov;21(5):489-95. doi: 10.1097/00000637-198811000-00017. PMID: 3232940

Therapy

Zhang RS, Wes AM, Naran S, Hoppe IC, Sun J, Mazzaferro D, Bartlett SP, Taylor JA
J Craniofac Surg 2018 May;29(3):566-571. doi: 10.1097/SCS.0000000000004230. PMID: 29381615
Levy S, Fayez I, Taguchi N, Han JY, Aiello J, Matsui D, Moretti M, Koren G, Ito S
Bone 2009 Mar;44(3):428-30. Epub 2008 Nov 14 doi: 10.1016/j.bone.2008.11.001. PMID: 19059370
Benjamin LT, Trowers AB, Schachner LA
Pediatr Dermatol 2005 Nov-Dec;22(6):561-5. doi: 10.1111/j.1525-1470.2005.00141.x. PMID: 16354263
Anderson PJ, Hall CM, Evans RD, Hayward RD, Jones BM
J Pediatr Orthop 1999 Jul-Aug;19(4):504-7. doi: 10.1097/00004694-199907000-00015. PMID: 10413001
Seelenfreund M, Gartner S
Arch Ophthalmol 1967 Jul;78(1):8-11. doi: 10.1001/archopht.1967.00980030010002. PMID: 6027737

Prognosis

Vimercati A, Olivieri C, Dellino M, Gentile M, Tinelli R, Cicinelli E
J Matern Fetal Neonatal Med 2022 Dec;35(25):7840-7843. Epub 2021 Jun 28 doi: 10.1080/14767058.2021.1937984. PMID: 34182859
Winge MI, Røkkum M
J Pediatr Orthop 2021 May-Jun 01;41(5):312-318. doi: 10.1097/BPO.0000000000001785. PMID: 33710128
Bruce WJ, Chang V, Joyce CJ, Cobb AN, Maduekwe UI, Patel PA
Cleft Palate Craniofac J 2018 May;55(5):649-654. Epub 2017 Dec 14 doi: 10.1177/1055665617725215. PMID: 29665342Free PMC Article
Stomnaroska O, Danilovski D, Ivanovska S
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Dec 1;38(3):153-155. doi: 10.2478/prilozi-2018-0016. PMID: 29668474
Breik O, Mahindu A, Moore MH, Molloy CJ, Santoreneos S, David DJ
Childs Nerv Syst 2016 May;32(5):833-8. Epub 2016 Feb 10 doi: 10.1007/s00381-016-3036-z. PMID: 26861132

Clinical prediction guides

Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
Bruce WJ, Chang V, Joyce CJ, Cobb AN, Maduekwe UI, Patel PA
Cleft Palate Craniofac J 2018 May;55(5):649-654. Epub 2017 Dec 14 doi: 10.1177/1055665617725215. PMID: 29665342Free PMC Article
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
Premalatha, Kannan VP; Madhu
J Indian Soc Pedod Prev Dent 2010 Oct-Dec;28(4):322-5. doi: 10.4103/0970-4388.76169. PMID: 21273726
Albuquerque MA, Cavalcanti MG
Braz Oral Res 2004 Jan-Mar;18(1):35-9. Epub 2004 Jul 20 doi: 10.1590/s1806-83242004000100007. PMID: 15273784

Recent systematic reviews

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

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