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Acrocephalopolysyndactyly

MedGen UID:
673840
Concept ID:
C0687154
Disease or Syndrome
Synonyms: ACPS; acrocephalopolysyndactyly
SNOMED CT: Acrocephalopolysyndactyly (205260006)
 
Monarch Initiative: MONDO:0000078

Definition

A common presentation of craniosynostosis and polysyndactyly. [from MONDO]

Recent clinical studies

Etiology

Perlyn CA, Marsh JL
Plast Reconstr Surg 2008 Mar;121(3):971-981. doi: 10.1097/01.prs.0000299284.92862.6c. PMID: 18317146
Cohen MM Jr, Kreiborg S
Am J Med Genet 1995 May 22;57(1):82-96. doi: 10.1002/ajmg.1320570119. PMID: 7645606
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858
Jamil MN, Bannister CM, Ward G
Br J Neurosurg 1992;6(3):243-7. doi: 10.3109/02688699209002933. PMID: 1632924
Robinow M, Sorauf TJ
Birth Defects Orig Artic Ser 1975;11(5):99-106. PMID: 1240778

Diagnosis

Khairat R, Elhossini R, Sobreira N, Wohler E, Otaify G, Mohamed AM, Abdel Raouf ER, Sayed I, Aglan M, Ismail S, Temtamy SA
Eur J Med Genet 2022 Jan;65(1):104377. Epub 2021 Nov 5 doi: 10.1016/j.ejmg.2021.104377. PMID: 34748996
Lodhia J, Rego-Garcia I, Koipapi S, Sadiq A, Msuya D, Spaendonk RV, Hamel B, Dekker M
Am J Med Genet A 2021 Mar;185(3):986-989. Epub 2020 Dec 24 doi: 10.1002/ajmg.a.62015. PMID: 33368989
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Kadakia S, Helman SN, Healy NJ, Saman M, Wood-Smith D
J Craniofac Surg 2014 Sep;25(5):1653-7. doi: 10.1097/SCS.0000000000001121. PMID: 25162549
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

Therapy

Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. PMID: 28593893

Prognosis

Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Ramos JM, Davis GJ, Hunsaker JC 3rd, Balko MG
Forensic Sci Med Pathol 2009 Dec;5(4):313-7. Epub 2009 Nov 19 doi: 10.1007/s12024-009-9128-2. PMID: 19924577
Balci S, Haytoğlu T, Ozer S
Turk J Pediatr 1998 Jul-Sep;40(3):461-6. PMID: 9763914
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858
Jamil MN, Bannister CM, Ward G
Br J Neurosurg 1992;6(3):243-7. doi: 10.3109/02688699209002933. PMID: 1632924

Clinical prediction guides

Chen S, Venkatesan A, Lin YQ, Xie J, Neely G, Banerjee S, Bhat MA
J Neurosci 2022 Sep 14;42(37):7016-7030. Epub 2022 Aug 9 doi: 10.1523/JNEUROSCI.0442-22.2022. PMID: 35944997Free PMC Article
Mircevsk V, Zogovska E, Chaparoski A, Micunovic M, Filipce V, Mirchevski MM, Kostov M, Мicunovic L
Pril (Makedon Akad Nauk Umet Odd Med Nauki) 2017 Mar 1;38(1):35-40. doi: 10.1515/prilozi-2017-0004. PMID: 28593893
Haye D, Collet C, Sembely-Taveau C, Haddad G, Denis C, Soulé N, Suc AL, Listrat A, Toutain A
Am J Med Genet A 2014 Nov;164A(11):2926-30. Epub 2014 Aug 28 doi: 10.1002/ajmg.a.36726. PMID: 25168863
Twigg SR, Lloyd D, Jenkins D, Elçioglu NE, Cooper CD, Al-Sannaa N, Annagür A, Gillessen-Kaesbach G, Hüning I, Knight SJ, Goodship JA, Keavney BD, Beales PL, Gileadi O, McGowan SJ, Wilkie AO
Am J Hum Genet 2012 Nov 2;91(5):897-905. Epub 2012 Oct 11 doi: 10.1016/j.ajhg.2012.08.027. PMID: 23063620Free PMC Article
Taravath S, Tonsgard JH
Pediatr Neurol 1993 May-Jun;9(3):230-4. doi: 10.1016/0887-8994(93)90092-q. PMID: 8352858

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