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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
Harley RD
Ophthalmic Surg 1985 Mar;16(3):187-95. PMID: 3887264

Recent clinical studies

Etiology

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
Elia M, Musumeci SA, Ferri R, Greco D, Romano C, Del Gracco S, Stefanini MC
Childs Nerv Syst 1996 Nov;12(11):699-704. doi: 10.1007/BF00366154. PMID: 9118134
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
Sharma A, Patel N, Arora S, Ramachandran R
Acta Anaesthesiol Belg 2014;65(4):179-82. PMID: 25622384
Ercoli G, Bidondo MP, Senra BC, Groisman B
Birth Defects Res A Clin Mol Teratol 2014 Sep;100(9):726-9. Epub 2014 Jul 21 doi: 10.1002/bdra.23270. PMID: 25045033
Krueger JL, Ide CH
Ann Ophthalmol 1974 Aug;6(8):787-9 passim. PMID: 4411823

Therapy

Escobar LF, Hiett AK, Marnocha A
Am J Med Genet A 2009 Jun;149A(6):1273-6. doi: 10.1002/ajmg.a.32841. PMID: 19449410
Lee YH, Liou SC, Chen C, Wong TK, Tan PP
Changgeng Yi Xue Za Zhi 1999 Dec;22(4):682-6. PMID: 10695222
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
Seelenfreund M, Gartner S
Arch Ophthalmol 1967 Jul;78(1):8-11. doi: 10.1001/archopht.1967.00980030010002. PMID: 6027737

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
Flora M, Diniz P, Neto AL, Teixeira N, Carvalho P, Pinto FG
J Foot Ankle Surg 2018 Jan-Feb;57(1):205-209. Epub 2017 Nov 3 doi: 10.1053/j.jfas.2017.08.003. PMID: 29103889
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
Pfeiffer RA, Rinnert S, Popp R, Röckelein G
Am J Med Genet 1996 May 3;63(1):175-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<175::AID-AJMG30>3.0.CO;2-J. PMID: 8723105

Clinical prediction guides

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
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
Kreiborg S, Barr M Jr, Cohen MM Jr
Am J Med Genet 1992 Jul 1;43(4):704-8. doi: 10.1002/ajmg.1320430411. PMID: 1621762
Beligere N, Harris V, Pruzansky S
Radiology 1981 Jun;139(3):593-7. doi: 10.1148/radiology.139.3.6785821. PMID: 6785821
Solomon LM, Cohen MM Jr, Pruzansky S
Birth Defects Orig Artic Ser 1971 Jun;7(8):193-5. PMID: 4281326

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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