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Increased size of the mandible

MedGen UID:
905585
Concept ID:
C4280644
Finding
Synonym: Large jaw
 
HPO: HP:0040309

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased size of the mandible

Conditions with this feature

Primrose syndrome
MedGen UID:
162911
Concept ID:
C0796121
Disease or Syndrome
Primrose syndrome is characterized by macrocephaly, hypotonia, developmental delay, intellectual disability with expressive speech delay, behavioral issues, a recognizable facial phenotype, radiographic features, and altered glucose metabolism. Additional features seen in adults: sparse body hair, distal muscle wasting, and contractures. Characteristic craniofacial features include brachycephaly, high anterior hairline, deeply set eyes, ptosis, downslanted palpebral fissures, high palate with torus palatinus, broad jaw, and large ears with small or absent lobes. Radiographic features include calcification of the external ear cartilage, multiple Wormian bones, platybasia, bathrocephaly, slender bones with exaggerated metaphyseal flaring, mild epiphyseal dysplasia, and spondylar dysplasia. Additional features include hearing impairment, ocular anomalies, cryptorchidism, and nonspecific findings on brain MRI.
Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
MedGen UID:
412536
Concept ID:
C2746068
Disease or Syndrome
FLNA deficiency is associated with a phenotypic spectrum that includes FLNA-related periventricular nodular heterotopia (Huttenlocher syndrome), congenital heart disease (patent ductus arteriosus, atrial and ventricular septal defects), valvular dystrophy, dilation and rupture of the thoracic aortic, pulmonary disease (pulmonary hypertension, alveolar hypoplasia, emphysema, asthma, chronic bronchitis), gastrointestinal dysmotility and obstruction, joint hypermobility, and macrothrombocytopenia.

Professional guidelines

PubMed

Kim S, Hwang SJ, Seo MS
BMC Oral Health 2023 May 13;23(1):289. doi: 10.1186/s12903-023-02907-1. PMID: 37179291Free PMC Article
Mavreas D, Athanasiou AE
J Orthod 2022 Dec;49(4):463-471. Epub 2022 Apr 18 doi: 10.1177/14653125221093390. PMID: 35437070
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article

Recent clinical studies

Etiology

Movahhedian N, Sardarian A, Hosseini A, Momeni Danaei S, Hamedani S
J Orofac Orthop 2022 Oct;83(Suppl 1):56-64. Epub 2021 Dec 22 doi: 10.1007/s00056-021-00368-1. PMID: 34936007
Mustapha AD, Salame Z, Chrcanovic BR
Medicina (Kaunas) 2021 Dec 27;58(1) doi: 10.3390/medicina58010039. PMID: 35056347Free PMC Article
Marañón-Vásquez GA, Vieira AR, Dos Santos LV, Cunha AS, Weiss SG, Araujo MTS, Bolognese AM, Scariot R, Küchler EC, Stuani MBS
Angle Orthod 2021 May 1;91(3):356-362. doi: 10.2319/060920-531.1. PMID: 33492380Free PMC Article
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Guiglia R, Di Fede O, Lo Russo L, Sprini D, Rini GB, Campisi G
Med Oral Patol Oral Cir Bucal 2013 Jan 1;18(1):e93-9. doi: 10.4317/medoral.18298. PMID: 23229255Free PMC Article

Diagnosis

Tsyhykalo OV, Kuzniak NB, Perebyjnis PP, Boitsaniuk SI, Tsvyntarna IY, Servatovych AM
Wiad Lek 2021;74(2):291-294. PMID: 33813489
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Lim DZ, Lim HJ
J Fam Pract 2018 Jan;67(1):E10-E12. PMID: 29309479
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article
Topouzelis N, Iliopoulos C, Kolokitha OE
Int Dent J 2011 Apr;61(2):63-9. doi: 10.1111/j.1875-595X.2011.00015.x. PMID: 21554274Free PMC Article

Therapy

Mustapha AD, Salame Z, Chrcanovic BR
Medicina (Kaunas) 2021 Dec 27;58(1) doi: 10.3390/medicina58010039. PMID: 35056347Free PMC Article
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Liao LQ, Yan HH, Mai JH, Liu WW, Li H, Guo ZM, Zeng ZY, Liu XK
Chin J Cancer 2016 Oct 12;35(1):89. doi: 10.1186/s40880-016-0153-8. PMID: 27729091Free PMC Article
Brown JS, Barry C, Ho M, Shaw R
Lancet Oncol 2016 Jan;17(1):e23-30. Epub 2015 Dec 23 doi: 10.1016/S1470-2045(15)00310-1. PMID: 26758757
Chiapasco M
Int J Oral Maxillofac Implants 2004;19 Suppl:76-91. PMID: 15635948

Prognosis

Li XJ, Ye YC, Zhang YS, Wu JM
PLoS One 2022;17(1):e0261042. Epub 2022 Jan 6 doi: 10.1371/journal.pone.0261042. PMID: 34990461Free PMC Article
Tsyhykalo OV, Kuzniak NB, Perebyjnis PP, Boitsaniuk SI, Tsvyntarna IY, Servatovych AM
Wiad Lek 2021;74(2):291-294. PMID: 33813489
Lee H, Lee SJ, Seo BM
J Oral Maxillofac Surg 2019 Sep;77(9):1823-1831. Epub 2019 Mar 28 doi: 10.1016/j.joms.2019.03.022. PMID: 31009634
Liao LQ, Yan HH, Mai JH, Liu WW, Li H, Guo ZM, Zeng ZY, Liu XK
Chin J Cancer 2016 Oct 12;35(1):89. doi: 10.1186/s40880-016-0153-8. PMID: 27729091Free PMC Article
Hutchinson EF, Kieser JA, Kramer B
Eur J Oral Sci 2014 Jun;122(3):181-9. Epub 2014 Apr 9 doi: 10.1111/eos.12126. PMID: 24712417

Clinical prediction guides

Bevini M, Gulotta C, Lunari O, Cercenelli L, Marcelli E, Felice P, Tarsitano A, Badiali G
J Craniomaxillofac Surg 2024 May;52(5):570-577. Epub 2024 Feb 5 doi: 10.1016/j.jcms.2024.02.009. PMID: 38485626
Mavreas D, Athanasiou AE
J Orthod 2022 Dec;49(4):463-471. Epub 2022 Apr 18 doi: 10.1177/14653125221093390. PMID: 35437070
Oeschger ES, Kanavakis G, Halazonetis DJ, Gkantidis N
Sci Rep 2020 Feb 4;10(1):1820. doi: 10.1038/s41598-020-58565-8. PMID: 32019986Free PMC Article
Ostrofsky M, Morkel JA, Titinchi F
J Stomatol Oral Maxillofac Surg 2019 Dec;120(6):584-587. Epub 2019 Jan 25 doi: 10.1016/j.jormas.2019.01.013. PMID: 30685345
Papadaki ME, Lietman SA, Levine MA, Olsen BR, Kaban LB, Reichenberger EJ
Orphanet J Rare Dis 2012 May 24;7 Suppl 1(Suppl 1):S6. doi: 10.1186/1750-1172-7-S1-S6. PMID: 22640403Free PMC Article

Recent systematic reviews

Tassone P, Galloway T, Dooley L, Zitsch R 3rd
Ann Otol Rhinol Laryngol 2022 Aug;131(8):880-891. Epub 2021 Sep 23 doi: 10.1177/00034894211047463. PMID: 34553635
Mustapha AD, Salame Z, Chrcanovic BR
Medicina (Kaunas) 2021 Dec 27;58(1) doi: 10.3390/medicina58010039. PMID: 35056347Free PMC Article
Shu C, Xiong X, Huang L, Liu Y
Orthod Craniofac Res 2021 Aug;24(3):305-313. Epub 2020 Dec 14 doi: 10.1111/ocr.12454. PMID: 33290631
Alvira-González J, De Stavola L
Int J Oral Maxillofac Surg 2020 Jul;49(7):945-951. Epub 2019 Nov 9 doi: 10.1016/j.ijom.2019.10.011. PMID: 31718859
Martin WC, Pollini A, Morton D
Int J Oral Maxillofac Implants 2014;29 Suppl:142-54. doi: 10.11607/jomi.2014suppl.g3.1. PMID: 24660196

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