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Abnormality of the chin

MedGen UID:
871368
Concept ID:
C4025864
Anatomical Abnormality
Synonyms: Abnormality of the menton; Anomaly of the chin; Deformity of the chin; Malformation of the chin
 
HPO: HP:0000306

Definition

An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. [from HPO]

Conditions with this feature

Noonan syndrome 7
MedGen UID:
462320
Concept ID:
C3150970
Disease or Syndrome
Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population.

Professional guidelines

PubMed

Savelieva I, Fumagalli S, Kenny RA, Anker S, Benetos A, Boriani G, Bunch J, Dagres N, Dubner S, Fauchier L, Ferrucci L, Israel C, Kamel H, Lane DA, Lip GYH, Marchionni N, Obel I, Okumura K, Olshansky B, Potpara T, Stiles MK, Tamargo J, Ungar A, Kosiuk J, Larsen TB, Dinov B, Estner H, Garcia R, Moscoso Costa FM, Lampert R, Lin YJ, Chin A, Rodriguez HA, Strandberg T, Grodzicki T
Europace 2023 Apr 15;25(4):1249-1276. doi: 10.1093/europace/euac123. PMID: 37061780Free PMC Article
Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium, Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A
BMC Biol 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. PMID: 36737727Free PMC Article
Chin EM, Gwynn HE, Robinson S, Hoon AH Jr
Neurol Clin 2020 May;38(2):397-416. doi: 10.1016/j.ncl.2020.01.009. PMID: 32279717Free PMC Article

Recent clinical studies

Etiology

Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; International Mouse Phenotyping Consortium, Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A
BMC Biol 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. PMID: 36737727Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
Chin CJ, Khami MM, Husein M
Int J Pediatr Otorhinolaryngol 2014 Jun;78(6):899-904. Epub 2014 Mar 20 doi: 10.1016/j.ijporl.2014.03.012. PMID: 24704318
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Spear SL, Kassan M
Clin Plast Surg 1989 Oct;16(4):695-706. PMID: 2680217

Diagnosis

Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P
Genes (Basel) 2023 Aug 23;14(9) doi: 10.3390/genes14091664. PMID: 37761804Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Priolo M, Schanze D, Tatton-Brown K, Mulder PA, Tenorio J, Kooblall K, Acero IH, Alkuraya FS, Arias P, Bernardini L, Bijlsma EK, Cole T, Coubes C, Dapia I, Davies S, Di Donato N, Elcioglu NH, Fahrner JA, Foster A, González NG, Huber I, Iascone M, Kaiser AS, Kamath A, Liebelt J, Lynch SA, Maas SM, Mammì C, Mathijssen IB, McKee S, Menke LA, Mirzaa GM, Montgomery T, Neubauer D, Neumann TE, Pintomalli L, Pisanti MA, Plomp AS, Price S, Salter C, Santos-Simarro F, Sarda P, Segovia M, Shaw-Smith C, Smithson S, Suri M, Valdez RM, Van Haeringen A, Van Hagen JM, Zollino M, Lapunzina P, Thakker RV, Zenker M, Hennekam RC
Hum Mutat 2018 Sep;39(9):1226-1237. Epub 2018 Jun 25 doi: 10.1002/humu.23563. PMID: 29897170Free PMC Article
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
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Therapy

Bateman RJ, Smith J, Donohue MC, Delmar P, Abbas R, Salloway S, Wojtowicz J, Blennow K, Bittner T, Black SE, Klein G, Boada M, Grimmer T, Tamaoka A, Perry RJ, Turner RS, Watson D, Woodward M, Thanasopoulou A, Lane C, Baudler M, Fox NC, Cummings JL, Fontoura P, Doody RS; GRADUATE I and II Investigators and the Gantenerumab Study Group
N Engl J Med 2023 Nov 16;389(20):1862-1876. doi: 10.1056/NEJMoa2304430. PMID: 37966285Free PMC Article
Warady BA, Pergola PE, Agarwal R, Andreoli S, Appel GB, Bangalore S, Block GA, Chapman AB, Chin MP, Gibson KL, Goldsberry A, Iijima K, Inker LA, Kashtan CE, Knebelmann B, Mariani LH, Meyer CJ, Nozu K, O'Grady M, Rheault MN, Silva AL, Stenvinkel P, Torra R, Chertow GM
Clin J Am Soc Nephrol 2022 Dec;17(12):1763-1774. Epub 2022 Nov 21 doi: 10.2215/CJN.02400222. PMID: 36411058Free PMC Article
van den Munckhof B, Arzimanoglou A, Perucca E, van Teeseling HC, Leijten FSS, Braun KPJ, Jansen FE; RESCUE ESES study group
Trials 2020 Nov 23;21(1):957. doi: 10.1186/s13063-020-04874-2. PMID: 33228736Free PMC Article
Devinsky O, Patel AD, Thiele EA, Wong MH, Appleton R, Harden CL, Greenwood S, Morrison G, Sommerville K; GWPCARE1 Part A Study Group
Neurology 2018 Apr 3;90(14):e1204-e1211. Epub 2018 Mar 14 doi: 10.1212/WNL.0000000000005254. PMID: 29540584Free PMC Article
Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S; Cannabidiol in Dravet Syndrome Study Group
N Engl J Med 2017 May 25;376(21):2011-2020. doi: 10.1056/NEJMoa1611618. PMID: 28538134

Prognosis

Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P
Genes (Basel) 2023 Aug 23;14(9) doi: 10.3390/genes14091664. PMID: 37761804Free PMC Article
Ryan TD, Chin C
Semin Pediatr Surg 2017 Aug;26(4):206-212. Epub 2017 Jul 26 doi: 10.1053/j.sempedsurg.2017.07.012. PMID: 28964475
Alwadei S
J Contemp Dent Pract 2017 Mar 1;18(3):250-256. PMID: 28258274
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Maillefert JF, Gazet-Maillefert MP, Tavernier C, Farge P
Joint Bone Spine 2000;67(2):86-93. PMID: 10769099

Clinical prediction guides

Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P
Genes (Basel) 2023 Aug 23;14(9) doi: 10.3390/genes14091664. PMID: 37761804Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Ryan TD, Chin C
Semin Pediatr Surg 2017 Aug;26(4):206-212. Epub 2017 Jul 26 doi: 10.1053/j.sempedsurg.2017.07.012. PMID: 28964475
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Slavotinek A, Shaffer LG, Shapira SK
J Med Genet 1999 Sep;36(9):657-63. PMID: 10507720Free PMC Article

Recent systematic reviews

Tingting L, Tongou L, Mingfu L
J Tradit Chin Med 2024 Feb;44(1):16-26. doi: 10.19852/j.cnki.jtcm.20231204.006. PMID: 38213235Free PMC Article
Sales PHDH, Cetira Filho EL, Silva PGB, Costa FWG, Leão JC
J Oral Maxillofac Surg 2023 Aug;81(8):988-1000. Epub 2023 Apr 24 doi: 10.1016/j.joms.2023.04.011. PMID: 37182542
Detsky ME, Jivraj N, Adhikari NK, Friedrich JO, Pinto R, Simel DL, Wijeysundera DN, Scales DC
JAMA 2019 Feb 5;321(5):493-503. doi: 10.1001/jama.2018.21413. PMID: 30721300
Kaneoka A, Yang S, Inokuchi H, Ueha R, Yamashita H, Nito T, Seto Y, Haga N
Dis Esophagus 2018 Aug 1;31(8) doi: 10.1093/dote/doy050. PMID: 29788321Free PMC Article
Chin RY, Moran T, Fenton JE
Int J Pediatr Otorhinolaryngol 2013 May;77(5):629-34. Epub 2013 Mar 29 doi: 10.1016/j.ijporl.2013.02.006. PMID: 23541959

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