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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
Humphreys RP
Clin Plast Surg 1991 Apr;18(2):231-5. PMID: 2065486

Recent clinical studies

Etiology

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
Huang F, Sweet R, Tewfik TL
Int J Pediatr Otorhinolaryngol 2004 Apr;68(4):495-501. doi: 10.1016/j.ijporl.2003.11.010. PMID: 15013619
Cohen MM Jr, Kreiborg S
Am J Med Genet 1995 May 22;57(1):82-96. doi: 10.1002/ajmg.1320570119. PMID: 7645606
Conen PE, Hampole MK, Thomson HG
Can Med Assoc J 1969 Nov 15;101(10):75-8. PMID: 4310631Free PMC Article

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
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
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
Roberts KB, Hall JG
Birth Defects Orig Artic Ser 1971 Jun;7(7):262-4. PMID: 5173217

Prognosis

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
Ludwig K, Salmaso R, Manara R, Cosmi E, Baldi M, Rugge M
Fetal Pediatr Pathol 2012 Dec;31(6):410-4. Epub 2012 Mar 23 doi: 10.3109/15513815.2012.659407. PMID: 22443264
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

Clinical prediction guides

Pelc A, Mikulewicz M
Dent Med Probl 2018 Apr-Jun;55(2):217-225. doi: 10.17219/dmp/91050. PMID: 30152628
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
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
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

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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