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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  
  • Abnormality 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, Biosse Duplan M, 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

Sacral Agenesis.
Sánchez-Romero M, Tlaxcala-Castillo L, Pichardo-Rojas PS, Valencia-Melo MA, Paz-López ÁA, Sánchez-Sagastegui F, Wegman-Ostrosky T; International Sacral Agenesis/Caudal Regression Association
Pediatr Neurol 2025 Feb;163:27-34. Epub 2024 Nov 5 doi: 10.1016/j.pediatrneurol.2024.10.020. PMID: 39642685
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
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
The nature of the congenitally dislocated hip.
Somerville EW
Proc R Soc Med 1974 Nov;67(11):1169-74. doi: 10.1177/003591577406701131. PMID: 4438304Free PMC Article
The prognosis of encephaloceles.
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997

Diagnosis

Limbus vertebra.
Sanal HT, Yilmaz S, Simsek I
Arthritis Rheum 2012 Dec;64(12):4011. doi: 10.1002/art.34630. PMID: 22833300
Congenital anomalies of the brain, spine, and neck. Foreword.
Mukherji SK
Neuroimaging Clin N Am 2011 Aug;21(3):xi. doi: 10.1016/j.nic.2011.06.001. PMID: 21807307
Omphalocele.
Mahour GH
Surg Gynecol Obstet 1976 Nov;143(5):821-8. PMID: 136050
The prognosis of encephaloceles.
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997
OCULOAURICULOVERTEBRAL DYSPLASIA.
GORLIN RJ, JUE KL, JACOBSEN U, GOLDSCHMIDT E
J Pediatr 1963 Nov;63:991-9. doi: 10.1016/s0022-3476(63)80233-4. PMID: 14071056

Therapy

Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
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
The teratogenic risk of antiepileptic drugs.
Janz D
Epilepsia 1975 Mar;16(1):159-69. doi: 10.1111/j.1528-1157.1975.tb04732.x. PMID: 235422
Phenocopies.
Lenz W
J Med Genet 1973 Mar;10(1):34-49. doi: 10.1136/jmg.10.1.34. PMID: 4354695Free PMC Article

Prognosis

"Coat Hanger" Appearance of the Ribs.
Al-Mudares F, Fernandes CJ
N Engl J Med 2020 Mar 26;382(13):1257. doi: 10.1056/NEJMicm1910897. PMID: 32212521
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
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
The prognosis of encephaloceles.
Mealey J Jr, Dzenitis AJ, Hockey AA
J Neurosurg 1970 Feb;32(2):209-18. doi: 10.3171/jns.1970.32.2.0209. PMID: 5411997

Clinical prediction guides

Ultrasonography in the Diagnosis and Management of Developmental Dysplasia of the Hip.
Edmonds EW, Hughes JL, Bomar JD, Brooks JT, Upasani VV
JBJS Rev 2019 Dec;7(12):e5. doi: 10.2106/JBJS.RVW.19.00063. PMID: 31880623
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
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
Torsional deformity.
Staheli LT
Pediatr Clin North Am 1986 Dec;33(6):1373-83. doi: 10.1016/s0031-3955(16)36148-x. PMID: 3786004

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
Interventions for congenital talipes equinovarus (clubfoot).
Bina S, Pacey V, Barnes EH, Burns J, Gray K
Cochrane Database Syst Rev 2020 May 15;5(5):CD008602. doi: 10.1002/14651858.CD008602.pub4. PMID: 32412098Free 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

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