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Congenital kyphoscoliosis

MedGen UID:
87501
Concept ID:
C0345392
Congenital Abnormality
SNOMED CT: Congenital kyphoscoliosis (405772002)
 
HPO: HP:0008453

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital kyphoscoliosis

Conditions with this feature

Congenital contractural arachnodactyly
MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families.

Professional guidelines

PubMed

Türkyilmaz G, Avcı S, Sıvrıkoz T, Erturk E, Altunoglu U, Turkyilmazlmaz SE, Kalelioglu IH, Has R, Yuksel A
Fetal Pediatr Pathol 2019 Apr;38(2):127-137. Epub 2019 Jan 2 doi: 10.1080/15513815.2018.1556367. PMID: 30600745
Aurora RN, Zak RS, Karippot A, Lamm CI, Morgenthaler TI, Auerbach SH, Bista SR, Casey KR, Chowdhuri S, Kristo DA, Ramar K; American Academy of Sleep Medicine
Sleep 2011 Mar 1;34(3):379-88. doi: 10.1093/sleep/34.3.379. PMID: 21359087Free PMC Article
Smith JT, Gollogly S, Dunn HK
J Bone Joint Surg Am 2005 Oct;87(10):2281-9. doi: 10.2106/JBJS.D.01795. PMID: 16203895

Recent clinical studies

Etiology

Sergeenko Pavlova OM, Savin DM, Ryabykh SO
Childs Nerv Syst 2022 Jan;38(1):163-172. Epub 2021 Oct 9 doi: 10.1007/s00381-021-05382-7. PMID: 34626222
Lucas P, Tello CA, Remondino RG, Moyano C, Wilson IA, Galaretto E, Bersusky ES, Noel MA
Spine Deform 2021 Jan;9(1):161-167. Epub 2020 Sep 15 doi: 10.1007/s43390-020-00198-y. PMID: 32930998
Hu F, Hu W, Yang X, Wang C, Song K, Zheng G, Zhang X
BMC Musculoskelet Disord 2020 Aug 17;21(1):555. doi: 10.1186/s12891-020-03558-x. PMID: 32807152Free PMC Article
Tsirikos AI, McMaster MJ
J Bone Joint Surg Am 2005 Nov;87(11):2523-36. doi: 10.2106/JBJS.D.02654. PMID: 16264130
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Diagnosis

Boachie-Adjei O, Duah HO, Yankey KP, Lenke LG, Sponseller PD, Sucato DJ, Samdani AF, Newton PO, Shah SA, Erickson MA, Akoto H, Sides BA, Gupta MC; Fox Pediatric Spinal Deformity Study
Spine Deform 2021 Mar;9(2):427-433. Epub 2020 Oct 9 doi: 10.1007/s43390-020-00211-4. PMID: 33034889
Wang S, Lin G, Yang Y, Cai S, Zhuang Q, Tian Y, Zhang J
J Bone Joint Surg Am 2019 Aug 7;101(15):1357-1365. doi: 10.2106/JBJS.18.01428. PMID: 31393426
Wang S, Zhuang Q, Zhang J, Tian Y, Zhao H, Wang Y, Zhao Y, Li S, Weng X, Qiu G, Shen J
Eur Spine J 2016 Oct;25(10):3194-3200. Epub 2015 Sep 1 doi: 10.1007/s00586-015-4205-6. PMID: 26324282
Chu G, Huang J, Zeng K, Guo Q, Zhang H
Childs Nerv Syst 2015 Jun;31(6):923-9. Epub 2015 Feb 15 doi: 10.1007/s00381-015-2630-9. PMID: 25681951
Kim KT, Lee SH, Suk KS, Lee JH, Jeong BO
Spine (Phila Pa 1976) 2012 Sep 1;37(19):1667-75. doi: 10.1097/BRS.0b013e3182552fd0. PMID: 22433502

Therapy

Wang S, Lin G, Yang Y, Cai S, Zhuang Q, Tian Y, Zhang J
J Bone Joint Surg Am 2019 Aug 7;101(15):1357-1365. doi: 10.2106/JBJS.18.01428. PMID: 31393426
Wang Y, Lenke LG
Eur Spine J 2011 Oct;20(10):1703-10. Epub 2011 Mar 19 doi: 10.1007/s00586-011-1771-0. PMID: 21424339Free PMC Article
Li G, Lv G, Passias P, Kozanek M, Metkar US, Liu Z, Wood KB, Rehak L, Deng Y
Eur Spine J 2010 Sep;19(9):1576-84. Epub 2010 Mar 17 doi: 10.1007/s00586-010-1316-y. PMID: 20237943Free PMC Article
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559
Suk SI, Kim JH, Kim WJ, Lee SM, Chung ER, Nah KH
Spine (Phila Pa 1976) 2002 Nov 1;27(21):2374-82. doi: 10.1097/00007632-200211010-00012. PMID: 12438987

Prognosis

Tian X, Huo Y, Han FY, Yang D, Ding W, Yang S
J Vis Exp 2022 Sep 16;(187) doi: 10.3791/64465. PMID: 36190288
Lucas P, Tello CA, Remondino RG, Moyano C, Wilson IA, Galaretto E, Bersusky ES, Noel MA
Spine Deform 2021 Jan;9(1):161-167. Epub 2020 Sep 15 doi: 10.1007/s43390-020-00198-y. PMID: 32930998
Matsumura A, Namikawa T, Kato M, Hori Y, Iwamae M, Hidaka N, Nakamura H
J Pediatr Orthop B 2020 Nov;29(6):572-579. doi: 10.1097/BPB.0000000000000729. PMID: 32956282
Xu L, Chen X, Qiao J, Chen Z, Shi B, Li S, Du C, Zhou Q, Zhu Z, Qiu Y, Sun X
Spine (Phila Pa 1976) 2019 Jan 15;44(2):E99-E106. doi: 10.1097/BRS.0000000000002773. PMID: 29975329
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

Clinical prediction guides

Moreno AEC, Montenegro MA, Santos PAN, Andrade DA, Pinto LA, Patrocínio MCA, Alves JAG
Einstein (Sao Paulo) 2022;20:eRC6903. Epub 2022 Aug 22 doi: 10.31744/einstein_journal/2022RC6903. PMID: 36000615Free PMC Article
Boachie-Adjei O, Duah HO, Yankey KP, Lenke LG, Sponseller PD, Sucato DJ, Samdani AF, Newton PO, Shah SA, Erickson MA, Akoto H, Sides BA, Gupta MC; Fox Pediatric Spinal Deformity Study
Spine Deform 2021 Mar;9(2):427-433. Epub 2020 Oct 9 doi: 10.1007/s43390-020-00211-4. PMID: 33034889
Lucas P, Tello CA, Remondino RG, Moyano C, Wilson IA, Galaretto E, Bersusky ES, Noel MA
Spine Deform 2021 Jan;9(1):161-167. Epub 2020 Sep 15 doi: 10.1007/s43390-020-00198-y. PMID: 32930998
Hu F, Hu W, Yang X, Wang C, Song K, Zheng G, Zhang X
BMC Musculoskelet Disord 2020 Aug 17;21(1):555. doi: 10.1186/s12891-020-03558-x. PMID: 32807152Free PMC Article
Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R
Spine (Phila Pa 1976) 2002 Sep 15;27(18):1995-2002. doi: 10.1097/00007632-200209150-00007. PMID: 12634559

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