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Abnormality of coordination

MedGen UID:
868939
Concept ID:
C4023353
Finding
Synonym: Coordination issue
 
HPO: HP:0011443

Conditions with this feature

Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).

Professional guidelines

PubMed

Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
Monbaliu E, Himmelmann K, Lin JP, Ortibus E, Bonouvrié L, Feys H, Vermeulen RJ, Dan B
Lancet Neurol 2017 Sep;16(9):741-749. doi: 10.1016/S1474-4422(17)30252-1. PMID: 28816119
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Recent clinical studies

Etiology

Mueller JL, Goldstein AM
Semin Pediatr Surg 2022 Apr;31(2):151157. Epub 2022 Apr 18 doi: 10.1016/j.sempedsurg.2022.151157. PMID: 35690468
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Anvarian Z, Mykytyn K, Mukhopadhyay S, Pedersen LB, Christensen ST
Nat Rev Nephrol 2019 Apr;15(4):199-219. doi: 10.1038/s41581-019-0116-9. PMID: 30733609Free PMC Article
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
Alfirevic Z, Navaratnam K, Mujezinovic F
Cochrane Database Syst Rev 2017 Sep 4;9(9):CD003252. doi: 10.1002/14651858.CD003252.pub2. PMID: 28869276Free PMC Article

Diagnosis

Mueller JL, Goldstein AM
Semin Pediatr Surg 2022 Apr;31(2):151157. Epub 2022 Apr 18 doi: 10.1016/j.sempedsurg.2022.151157. PMID: 35690468
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Yew KS, Kamps-Schmitt KA, Borge R
Am Fam Physician 2021 Apr 15;103(8):481-492. PMID: 33856167
Witchel SF
Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102. Epub 2017 Nov 22 doi: 10.1016/j.bpobgyn.2017.11.005. PMID: 29503125Free PMC Article
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855

Therapy

Perera KS, de Sa Boasquevisque D, Rao-Melacini P, Taylor A, Cheng A, Hankey GJ, Lee S, Fabregas JM, Ameriso SF, Field TS, Arauz A, Coutts SB, Arnold M, Mikulik R, Toni D, Mandzia J, Veltkamp RC, Meseguer E, Haeusler KG, Hart RG; Young ESUS Investigators
JAMA Neurol 2022 May 1;79(5):450-458. doi: 10.1001/jamaneurol.2022.0048. PMID: 35285869Free PMC Article
Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Devall AJ, Papadopoulou A, Podesek M, Haas DM, Price MJ, Coomarasamy A, Gallos ID
Cochrane Database Syst Rev 2021 Apr 19;4(4):CD013792. doi: 10.1002/14651858.CD013792.pub2. PMID: 33872382Free PMC Article
Arbyn M, Xu L, Simoens C, Martin-Hirsch PP
Cochrane Database Syst Rev 2018 May 9;5(5):CD009069. doi: 10.1002/14651858.CD009069.pub3. PMID: 29740819Free PMC Article
Ustinova KI, Chernikova LA, Dull A, Perkins J
Physiother Theory Pract 2015 Jan;31(1):1-7. Epub 2014 Aug 1 doi: 10.3109/09593985.2014.945674. PMID: 25083579

Prognosis

Perera KS, de Sa Boasquevisque D, Rao-Melacini P, Taylor A, Cheng A, Hankey GJ, Lee S, Fabregas JM, Ameriso SF, Field TS, Arauz A, Coutts SB, Arnold M, Mikulik R, Toni D, Mandzia J, Veltkamp RC, Meseguer E, Haeusler KG, Hart RG; Young ESUS Investigators
JAMA Neurol 2022 May 1;79(5):450-458. doi: 10.1001/jamaneurol.2022.0048. PMID: 35285869Free PMC Article
Pedrosa AL, Bitencourt L, Paranhos RM, Leitáo CA, Ferreira GC, Simões E Silva AC
Curr Med Chem 2021;28(27):5602-5624. doi: 10.2174/0929867328666210108113500. PMID: 33423643
Carethers JM, Doubeni CA
Gastroenterology 2020 Jan;158(2):354-367. Epub 2019 Nov 1 doi: 10.1053/j.gastro.2019.10.029. PMID: 31682851Free PMC Article
Picciolini O, Porro M, Cattaneo E, Castelletti S, Masera G, Mosca F, Bedeschi MF
Ital J Pediatr 2016 Jun 3;42(1):56. doi: 10.1186/s13052-016-0256-5. PMID: 27260152Free PMC Article
O'Shea TM
Clin Obstet Gynecol 2008 Dec;51(4):816-28. doi: 10.1097/GRF.0b013e3181870ba7. PMID: 18981805Free PMC Article

Clinical prediction guides

Shah SC, Piazuelo MB, Kuipers EJ, Li D
Gastroenterology 2021 Oct;161(4):1325-1332.e7. Epub 2021 Aug 26 doi: 10.1053/j.gastro.2021.06.078. PMID: 34454714Free PMC Article
González-Santos J, González-Bernal JJ, De-la-Fuente Anuncibay R, Soto-Cámara R, Cubo E, Aguilar-Parra JM, Trigueros R, López-Liria R
Int J Environ Res Public Health 2020 Apr 10;17(7) doi: 10.3390/ijerph17072612. PMID: 32290217Free PMC Article
Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M
Hum Mol Genet 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. PMID: 30481304
Birey F, Andersen J, Makinson CD, Islam S, Wei W, Huber N, Fan HC, Metzler KRC, Panagiotakos G, Thom N, O'Rourke NA, Steinmetz LM, Bernstein JA, Hallmayer J, Huguenard JR, Paşca SP
Nature 2017 May 4;545(7652):54-59. Epub 2017 Apr 26 doi: 10.1038/nature22330. PMID: 28445465Free PMC Article
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F
Pediatrics 2016 Sep;138(3) doi: 10.1542/peds.2016-0445. PMID: 27581855

Recent systematic reviews

Evans AM, Rome K, Carroll M, Hawke F
Cochrane Database Syst Rev 2022 Jan 26;1(1):CD006311. doi: 10.1002/14651858.CD006311.pub4. PMID: 35080267Free PMC Article
Devall AJ, Papadopoulou A, Podesek M, Haas DM, Price MJ, Coomarasamy A, Gallos ID
Cochrane Database Syst Rev 2021 Apr 19;4(4):CD013792. doi: 10.1002/14651858.CD013792.pub2. PMID: 33872382Free PMC Article
Arbyn M, Xu L, Simoens C, Martin-Hirsch PP
Cochrane Database Syst Rev 2018 May 9;5(5):CD009069. doi: 10.1002/14651858.CD009069.pub3. PMID: 29740819Free PMC Article
Alfirevic Z, Navaratnam K, Mujezinovic F
Cochrane Database Syst Rev 2017 Sep 4;9(9):CD003252. doi: 10.1002/14651858.CD003252.pub2. PMID: 28869276Free PMC Article
Koliopoulos G, Nyaga VN, Santesso N, Bryant A, Martin-Hirsch PP, Mustafa RA, Schünemann H, Paraskevaidis E, Arbyn M
Cochrane Database Syst Rev 2017 Aug 10;8(8):CD008587. doi: 10.1002/14651858.CD008587.pub2. PMID: 28796882Free PMC Article

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