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Shoulder flexion contracture

MedGen UID:
592333
Concept ID:
C0409336
Acquired Abnormality
Synonyms: Flexion contracture of shoulder; Flexion contracture-shoulder
SNOMED CT: Flexion contracture-shoulder (202265005); Flexion contracture of shoulder (202265005)
 
HPO: HP:0003044

Definition

Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShoulder flexion contracture

Conditions with this feature

Freeman-Sheldon syndrome
MedGen UID:
120516
Concept ID:
C0265224
Disease or Syndrome
Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Whistling face syndrome, recessive form
MedGen UID:
376364
Concept ID:
C1848470
Disease or Syndrome
Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010).
Nemaline myopathy 5
MedGen UID:
344273
Concept ID:
C1854380
Disease or Syndrome
Autosomal recessive severe infantile nemaline myopathy-5A (NEM5A) is a skeletal muscle disorder characterized by symptom onset soon after birth or in early infancy. Affected infants show axial hypotonia, stiffness, rigid spine with progressive kyphosis, pectus deformities, and contractures or limited movement of the large joints. Some patients show transient tremors. There is muscle atrophy and poor gross motor development. Respiratory insufficiency develops in the first years of life, often leading to death. Muscle biopsy shows nemaline rods (Johnston et al., 2000; Geraud et al., 2021). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM2 (256030).
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I (MOPD1) is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Myofibrillar myopathy 7
MedGen UID:
934678
Concept ID:
C4310711
Disease or Syndrome
Myofibrillar myopathy-7 (MFM7) is an autosomal recessive muscle disorder characterized by early childhood onset of slowly progressive muscle weakness that primarily affects the lower limbs and is associated with joint contractures (summary by Straussberg et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Arthrogryposis, distal, type 1C
MedGen UID:
1722257
Concept ID:
C5436834
Disease or Syndrome
Distal arthrogryposis type 1C (DA1C) is characterized by multiple congenital contractures, scoliosis, and short stature. Contractures involving the proximal joints appear to be more common in MYLPF-associated DA than in other forms of DA, and segmental amyoplasia has been observed (Chong et al., 2020).
Muscular dystrophy, limb-girdle, autosomal recessive 27
MedGen UID:
1794212
Concept ID:
C5562002
Disease or Syndrome
Autosomal recessive limb-girdle muscular dystrophy-27 (LGMDR27) is characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. The age at onset is highly variable, from infancy to young adulthood. Patients with infantile onset may have a more severe disease course with rapid progression. Upper limb involvement and distal muscle weakness may also occur. Additional more variable features include neck muscle weakness, scoliosis, and joint contractures. Less common features include impaired intellectual development or speech delay, cardiomyopathy, and cardiac arrhythmia. Muscle biopsy shows nonspecific dystrophic changes (Coppens et al., 2021). For a discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Congenital myopathy 22B, severe fetal
MedGen UID:
1841137
Concept ID:
C5830501
Disease or Syndrome
Severe fetal congenital myopathy-22B (CMYP22B) is an autosomal recessive muscle disorder characterized by in utero onset of severe muscle weakness manifest as fetal akinesia. The pregnancies are often complicated by polyhydramnios, and affected individuals develop fetal hydrops with pulmonary hypoplasia, severe joint contractures, and generalized muscle hypoplasia. Those who are born have respiratory failure resulting in death. Dysmorphic facial features may be present. The features in these patients overlap with fetal akinesia deformation sequence (FADS; see 208150) and lethal congenital contractures syndrome (LCCS; see 253310) (Zaharieva et al., 2016). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Zhang D, Earp BE, Blazar P
J Hand Surg Am 2023 Dec;48(12):1200-1209. Epub 2023 Sep 16 doi: 10.1016/j.jhsa.2023.08.008. PMID: 37725027
Sodhi N, Yao B, Khlopas A, Davidson IU, Sultan AA, Samuel LT, Lamaj S, Newman JM, Pivec R, Fisher KA, Gaal B, Mont MA
Surg Technol Int 2017 Dec 22;31:303-318. PMID: 29315452
Ball C, Pratt AL, Nanchahal J
BMC Musculoskelet Disord 2013 Apr 10;14:131. doi: 10.1186/1471-2474-14-131. PMID: 23575442Free PMC Article

Recent clinical studies

Etiology

Liu DS, Miller P, Rothenberg A, Vuillermin C, Waters PM, Bauer AS
J Pediatr 2024 Jan;264:113739. Epub 2023 Sep 17 doi: 10.1016/j.jpeds.2023.113739. PMID: 37717907
Hems T
J Hand Surg Eur Vol 2022 Dec;47(11):1121-1127. Epub 2022 Sep 1 doi: 10.1177/17531934221121912. PMID: 36050833
Nath RK, Leal AM, Somasundaram C
Int J Occup Med Environ Health 2021 Jun 28;34(3):427-435. Epub 2021 Jan 8 doi: 10.13075/ijomeh.1896.01634. PMID: 33559647
Zeman CA, Mueller JD, Sanderson BR, Gluck JS
J Shoulder Elbow Surg 2020 Aug;29(8):1548-1553. Epub 2020 May 4 doi: 10.1016/j.jse.2020.01.103. PMID: 32381475
Galle SE, Beck JD, Burchette RJ, Harness NG
J Hand Surg Am 2016 Feb;41(2):184-91. doi: 10.1016/j.jhsa.2015.11.018. PMID: 26815327

Diagnosis

Liu DS, Miller P, Rothenberg A, Vuillermin C, Waters PM, Bauer AS
J Pediatr 2024 Jan;264:113739. Epub 2023 Sep 17 doi: 10.1016/j.jpeds.2023.113739. PMID: 37717907
Celli A, Pederzini LA, Morrey BF
J ISAKOS 2024 Feb;9(1):94-97. Epub 2023 Sep 9 doi: 10.1016/j.jisako.2023.09.002. PMID: 37696358
Jambrina-Abasolo U, Hutanu D, Gonzalez-Morgado D, Blasco-Casado F, Rojas-Neira J, Soldado F
J Shoulder Elbow Surg 2023 Oct;32(10):2082-2088. Epub 2023 May 11 doi: 10.1016/j.jse.2023.03.036. PMID: 37178959
Haglin JM, Kugelman DN, Christiano A, Konda SR, Paksima N, Egol KA
J Shoulder Elbow Surg 2018 Mar;27(3):418-426. Epub 2017 Dec 28 doi: 10.1016/j.jse.2017.10.023. PMID: 29290605
Bach HG, Goldberg BA
J Am Acad Orthop Surg 2006 May;14(5):265-77. doi: 10.5435/00124635-200605000-00002. PMID: 16675620

Therapy

O'Driscoll SW, Lievano JR, Morrey ME, Sanchez-Sotelo J, Shukla DR, Olson TS, Fitzsimmons JS, Vaichinger AM, Shields MN
J Bone Joint Surg Am 2022 Mar 2;104(5):430-440. doi: 10.2106/JBJS.21.00685. PMID: 35234723
Arenas-Miquelez A, Arbeloa-Gutierrez L, Amaya M, Vázquez B, De Pablos Fernández J
J Pediatr Orthop 2021 Apr 1;41(4):e328-e336. doi: 10.1097/BPO.0000000000001767. PMID: 33560708
Rodrigues JN, Becker GW, Ball C, Zhang W, Giele H, Hobby J, Pratt AL, Davis T
Cochrane Database Syst Rev 2015 Dec 9;2015(12):CD010143. doi: 10.1002/14651858.CD010143.pub2. PMID: 26648251Free PMC Article
Cantero-Téllez R, Cuesta-Vargas AI, Cuadros-Romero M
J Hand Surg Am 2015 May;40(5):951-5. Epub 2015 Mar 11 doi: 10.1016/j.jhsa.2015.01.005. PMID: 25771480
Pain LM, Baker R, Richardson D, Agur AM
Disabil Rehabil 2015;37(7):553-62. Epub 2014 Jun 25 doi: 10.3109/09638288.2014.932450. PMID: 24963941

Prognosis

Liu DS, Miller P, Rothenberg A, Vuillermin C, Waters PM, Bauer AS
J Pediatr 2024 Jan;264:113739. Epub 2023 Sep 17 doi: 10.1016/j.jpeds.2023.113739. PMID: 37717907
Celli A, Pederzini LA, Morrey BF
J ISAKOS 2024 Feb;9(1):94-97. Epub 2023 Sep 9 doi: 10.1016/j.jisako.2023.09.002. PMID: 37696358
Chaudhry S, Bhardwaj P, Venkatramani H, Sabapathy SR
J Am Acad Orthop Surg 2021 May 1;29(9):e416-e426. doi: 10.5435/JAAOS-D-20-00719. PMID: 33883454
Zeman CA, Mueller JD, Sanderson BR, Gluck JS
J Shoulder Elbow Surg 2020 Aug;29(8):1548-1553. Epub 2020 May 4 doi: 10.1016/j.jse.2020.01.103. PMID: 32381475
Randone SB, Guiducci S, Cerinic MM
Best Pract Res Clin Rheumatol 2008 Apr;22(2):339-50. doi: 10.1016/j.berh.2008.01.008. PMID: 18455689

Clinical prediction guides

Liu DS, Miller P, Rothenberg A, Vuillermin C, Waters PM, Bauer AS
J Pediatr 2024 Jan;264:113739. Epub 2023 Sep 17 doi: 10.1016/j.jpeds.2023.113739. PMID: 37717907
Wonkam-Tingang E, Nguefack S, Esterhuizen AI, Chelo D, Wonkam A
Mol Genet Genomic Med 2020 Aug;8(8):e1362. Epub 2020 Jun 15 doi: 10.1002/mgg3.1362. PMID: 32543101Free PMC Article
Rodrigues JN, Becker GW, Ball C, Zhang W, Giele H, Hobby J, Pratt AL, Davis T
Cochrane Database Syst Rev 2015 Dec 9;2015(12):CD010143. doi: 10.1002/14651858.CD010143.pub2. PMID: 26648251Free PMC Article
Randone SB, Guiducci S, Cerinic MM
Best Pract Res Clin Rheumatol 2008 Apr;22(2):339-50. doi: 10.1016/j.berh.2008.01.008. PMID: 18455689
Soucacos PN, Vekris MD, Zoubos AB, Johnson EO
Microsurgery 2006;26(4):343-51. doi: 10.1002/micr.20249. PMID: 16628747

Recent systematic reviews

Zhang D, Earp BE, Blazar P
J Hand Surg Am 2023 Dec;48(12):1200-1209. Epub 2023 Sep 16 doi: 10.1016/j.jhsa.2023.08.008. PMID: 37725027
Oosterwijk AM, Nieuwenhuis MK, van der Schans CP, Mouton LJ
Physiother Theory Pract 2018 Jul;34(7):505-528. Epub 2018 Jan 29 doi: 10.1080/09593985.2017.1422206. PMID: 29377745
Rodrigues JN, Becker GW, Ball C, Zhang W, Giele H, Hobby J, Pratt AL, Davis T
Cochrane Database Syst Rev 2015 Dec 9;2015(12):CD010143. doi: 10.1002/14651858.CD010143.pub2. PMID: 26648251Free PMC Article
Pain LM, Baker R, Richardson D, Agur AM
Disabil Rehabil 2015;37(7):553-62. Epub 2014 Jun 25 doi: 10.3109/09638288.2014.932450. PMID: 24963941
Gobets D, Beckerman H, de Groot V, Van Doorn-Loogman MH, Becher JG
Dev Med Child Neurol 2010 Jun;52(6):517-28. Epub 2010 Feb 12 doi: 10.1111/j.1469-8749.2009.03607.x. PMID: 20163432

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