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Abnormality of the musculoskeletal system

MedGen UID:
1763488
•Concept ID:
C3825027
•
Anatomical Abnormality
HPO: HP:0033127

Definition

An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormality of the musculoskeletal system

Professional guidelines

PubMed

Sacroiliac joint dysfunction: pathophysiology, diagnosis, and treatment.
Gartenberg A, Nessim A, Cho W
Eur Spine J 2021 Oct;30(10):2936-2943. Epub 2021 Jul 16 doi: 10.1007/s00586-021-06927-9. PMID: 34272605
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Diagnosis and treatment of temporomandibular disorders.
Gauer RL, Semidey MJ
Am Fam Physician 2015 Mar 15;91(6):378-86. PMID: 25822556

Recent clinical studies

Etiology

Imaging of Congenital Spine Malformations.
White C, Milla SS, Maloney JA, Neuberger I
Clin Perinatol 2022 Sep;49(3):623-640. doi: 10.1016/j.clp.2022.05.003. PMID: 36113926
Non-surgical correction of cryptotia.
Chia DH, Sim N
J Plast Reconstr Aesthet Surg 2021 Feb;74(2):377-381. Epub 2020 Sep 20 doi: 10.1016/j.bjps.2020.08.133. PMID: 33071167
Sprengel's Deformity.
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Oligodactyly with Thumb.
Baek GH, Kim J
J Hand Surg Asian Pac Vol 2016 Oct;21(3):283-91. doi: 10.1142/S2424835516400087. PMID: 27595943
Congenital scoliosis.
Arlet V, Odent T, Aebi M
Eur Spine J 2003 Oct;12(5):456-63. Epub 2003 Jun 14 doi: 10.1007/s00586-003-0555-6. PMID: 14618384Free PMC Article

Diagnosis

Imaging of Congenital Spine Malformations.
White C, Milla SS, Maloney JA, Neuberger I
Clin Perinatol 2022 Sep;49(3):623-640. doi: 10.1016/j.clp.2022.05.003. PMID: 36113926
Congenital Deformities of the Hands.
Chu A, Chan J, Baxi O
Pediatr Clin North Am 2020 Feb;67(1):85-99. doi: 10.1016/j.pcl.2019.09.011. PMID: 31779839
Sprengel's Deformity.
Khan Durrani MY, Sohail AH, Khan I, Hashmi P
J Ayub Med Coll Abbottabad 2018 Jan-Mar;30(1):135-137. PMID: 29504352
Accessory hemi diaphragm.
Radhakrishnan J, Bean J, Piazza DJ, Chin AC
J Pediatr Surg 2014 Aug;49(8):1326-31. doi: 10.1016/j.jpedsurg.2014.03.005. PMID: 25092100
Congenital fibular deficiency.
Hamdy RC, Makhdom AM, Saran N, Birch J
J Am Acad Orthop Surg 2014 Apr;22(4):246-55. doi: 10.5435/JAAOS-22-04-246. PMID: 24668354

Therapy

Non-surgical correction of cryptotia.
Chia DH, Sim N
J Plast Reconstr Aesthet Surg 2021 Feb;74(2):377-381. Epub 2020 Sep 20 doi: 10.1016/j.bjps.2020.08.133. PMID: 33071167
Thalidomide and neurotrophism.
Soper JR, Bonar SF, O'Sullivan DJ, McCredie J, Willert HG
Skeletal Radiol 2019 Apr;48(4):517-525. Epub 2018 Oct 19 doi: 10.1007/s00256-018-3086-2. PMID: 30341712Free PMC Article
Practice Bulletin No. 187: Neural Tube Defects.
Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Fetal Valproate Syndrome.
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

Non-surgical correction of cryptotia.
Chia DH, Sim N
J Plast Reconstr Aesthet Surg 2021 Feb;74(2):377-381. Epub 2020 Sep 20 doi: 10.1016/j.bjps.2020.08.133. PMID: 33071167
Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Forefoot malformations, deformities and other congenital defects in children.
Rampal V, Giuliano F
Orthop Traumatol Surg Res 2020 Feb;106(1S):S115-S123. Epub 2019 Oct 21 doi: 10.1016/j.otsr.2019.03.021. PMID: 31648997
The Natural History of Meniscus Tears.
Chambers HG, Chambers RC
J Pediatr Orthop 2019 Jul;39(Issue 6, Supplement 1 Suppl 1):S53-S55. doi: 10.1097/BPO.0000000000001386. PMID: 31169650
Congenital Tibial Deficiency.
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269

Clinical prediction guides

Congenital Tibial Deficiency.
Litrenta J, Young M, Birch JG, Oetgen ME
J Am Acad Orthop Surg 2019 Mar 15;27(6):e268-e279. doi: 10.5435/JAAOS-D-16-00838. PMID: 30418269
Reprint of-Differential diagnosis: Trepanation.
Verano JW
Int J Paleopathol 2017 Dec;19:111-118. Epub 2017 Mar 28 doi: 10.1016/j.ijpp.2017.03.004. PMID: 29198392
Talocalcaneal Coalitions.
Murphy JS, Mubarak SJ
Foot Ankle Clin 2015 Dec;20(4):681-91. Epub 2015 Oct 23 doi: 10.1016/j.fcl.2015.07.009. PMID: 26589086
Whole-Organ Magnetic Resonance Imaging Score (WORMS) of the knee in osteoarthritis.
Peterfy CG, Guermazi A, Zaim S, Tirman PF, Miaux Y, White D, Kothari M, Lu Y, Fye K, Zhao S, Genant HK
Osteoarthritis Cartilage 2004 Mar;12(3):177-90. doi: 10.1016/j.joca.2003.11.003. PMID: 14972335
Congenital scoliosis.
Arlet V, Odent T, Aebi M
Eur Spine J 2003 Oct;12(5):456-63. Epub 2003 Jun 14 doi: 10.1007/s00586-003-0555-6. PMID: 14618384Free PMC Article

Recent systematic reviews

The effects of short foot exercises to treat flat foot deformity: A systematic review.
Hara S, Kitano M, Kudo S
J Back Musculoskelet Rehabil 2023;36(1):21-33. doi: 10.3233/BMR-210374. PMID: 35871320
Neuromuscular exercise in children with Down Syndrome: a systematic review.
Rodríguez-Grande EI, Vargas-Pinilla OC, Torres-Narvaez MR, Rodríguez-Malagón N
Sci Rep 2022 Sep 2;12(1):14988. doi: 10.1038/s41598-022-19086-8. PMID: 36056081Free PMC Article
Best Practices: Hip Femoroacetabular Impingement.
Schmaranzer F, Kheterpal AB, Bredella MA
AJR Am J Roentgenol 2021 Mar;216(3):585-598. Epub 2021 Jan 21 doi: 10.2214/AJR.20.22783. PMID: 33474984Free PMC Article
Managing molar-incisor hypomineralization: A systematic review.
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779
Structural Changes of Lumbar Muscles in Non-specific Low Back Pain: A Systematic Review.
Goubert D, Oosterwijck JV, Meeus M, Danneels L
Pain Physician 2016 Sep-Oct;19(7):E985-E1000. PMID: 27676689

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