U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Li M, Li M, Qiao L, Wu C, Xu D, Zhao Y, Zeng X
Chin Med J (Engl) 2023 Oct 5;136(19):2297-2306. doi: 10.1097/CM9.0000000000002539. PMID: 37185152Free PMC Article
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

Recent clinical studies

Etiology

Fu Y, Li Z, Zhao M, Shi R
Hua Xi Kou Qiang Yi Xue Za Zhi 2023 Aug 1;41(4):443-449. doi: 10.7518/hxkq.2023.2022508. PMID: 37474477Free 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
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

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
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Stanton DC
Facial Plast Surg 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. PMID: 12739183

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
Titcomb DA, Melton BF, Miyashita T, Bland HW
J Sport Rehabil 2022 Jul 1;31(5):640-644. Epub 2022 Feb 16 doi: 10.1123/jsr.2021-0381. PMID: 35172275
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
Stanton DC
Facial Plast Surg 2003 Feb;19(1):75-86. doi: 10.1055/s-2003-39130. PMID: 12739183

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
Fu Y, Li Z, Zhao M, Shi R
Hua Xi Kou Qiang Yi Xue Za Zhi 2023 Aug 1;41(4):443-449. doi: 10.7518/hxkq.2023.2022508. PMID: 37474477Free 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

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
Zhao H, He M, Zhang M, Sun Q, Zeng S, Chen L, Yang H, Liu M, Ren S, Meng X, Xu H
Am J Chin Med 2021;49(4):805-828. Epub 2021 Apr 6 doi: 10.1142/S0192415X21500385. PMID: 33827382
Chin KS, Yassi N, Churilov L, Masters CL, Watson R
Parkinsonism Relat Disord 2020 Nov;80:184-193. Epub 2020 Sep 23 doi: 10.1016/j.parkreldis.2020.09.030. PMID: 33260030
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...