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Jaw contracture

MedGen UID:
939075
Concept ID:
C4315108
Finding
Synonyms: Contractures of the jaw; Jaw contractures
 
HPO: HP:0033333

Definition

Limitation of motion of the jaw due to structural changes in a muscle such as the massseter responsible for jaw movement. [from HPO]

Term Hierarchy

Conditions with this feature

Compton-North congenital myopathy
MedGen UID:
393406
Concept ID:
C2675527
Disease or Syndrome
Congenital myopathy-12 (CMYP12) is an autosomal recessive disorder characterized by severe neonatal hypotonia resulting in feeding difficulties and respiratory failure within the first months of life. There is evidence of the disorder in utero, with decreased fetal movements and polyhydramnios. Additional features may include high-arched palate and contractures. Skeletal muscle biopsy shows myopathic changes with disrupted sarcomeres and minicore-like structures (Compton et al., 2008). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Pihut M, Gorecka M, Ceranowicz P, Wieckiewicz M
Pain Res Manag 2018;2018:9089286. Epub 2018 Feb 21 doi: 10.1155/2018/9089286. PMID: 29682131Free PMC Article
Marttila M, Lehtokari VL, Marston S, Nyman TA, Barnerias C, Beggs AH, Bertini E, Ceyhan-Birsoy O, Cintas P, Gerard M, Gilbert-Dussardier B, Hogue JS, Longman C, Eymard B, Frydman M, Kang PB, Klinge L, Kolski H, Lochmüller H, Magy L, Manel V, Mayer M, Mercuri E, North KN, Peudenier-Robert S, Pihko H, Probst FJ, Reisin R, Stewart W, Taratuto AL, de Visser M, Wilichowski E, Winer J, Nowak K, Laing NG, Winder TL, Monnier N, Clarke NF, Pelin K, Grönholm M, Wallgren-Pettersson C
Hum Mutat 2014 Jul;35(7):779-90. Epub 2014 May 1 doi: 10.1002/humu.22554. PMID: 24692096Free PMC Article
Weinberg LA
J Prosthet Dent 1979 Dec;42(6):654-64. doi: 10.1016/0022-3913(79)90197-5. PMID: 292777

Recent clinical studies

Etiology

Doležalová H, Zemek J, Tuček L
Acta Medica (Hradec Kralove) 2015;58(3):86-91. doi: 10.14712/18059694.2015.98. PMID: 26686948

Diagnosis

Doležalová H, Zemek J, Tuček L
Acta Medica (Hradec Kralove) 2015;58(3):86-91. doi: 10.14712/18059694.2015.98. PMID: 26686948
Campbell RM Jr
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. PMID: 19644333

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