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Low-set, posteriorly rotated ears

MedGen UID:
387834
•Concept ID:
C1857486
•
Finding
Synonym: Low-set posteriorly rotated ears

Recent clinical studies

Etiology

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
Weiss G, Confino Y, Shemer A, Trau H
J Eur Acad Dermatol Venereol 2004 May;18(3):324-7. doi: 10.1111/j.1468-3083.2004.00365.x. PMID: 15096145
Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies.
Francke U, Kernahan C, Bradshaw C
Humangenetik 1975;26(4):343-51. doi: 10.1007/BF00285386. PMID: 1150232

Diagnosis

Noonan syndrome-like phenotype associated with an ERF frameshift variant.
Hirano Y, Kuroda Y, Enomoto Y, Naruto T, Muroya K, Kurosawa K
Am J Med Genet A 2024 Sep;194(9):e63652. Epub 2024 May 14 doi: 10.1002/ajmg.a.63652. PMID: 38741564
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA
Am J Med Genet A 2014 Feb;164A(2):291-304. Epub 2013 Nov 5 doi: 10.1002/ajmg.a.36248. PMID: 24194475
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P
Orphanet J Rare Dis 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. PMID: 19267933Free PMC Article
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article

Prognosis

The RRAS2 pathogenic variant p.Q72L produces severe Noonan syndrome with hydrocephalus: A case report.
Weinstock NI, Sadler L
Am J Med Genet A 2022 Jan;188(1):364-368. Epub 2021 Oct 14 doi: 10.1002/ajmg.a.62523. PMID: 34648682
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.
Hamilton MJ, Caswell RC, Canham N, Cole T, Firth HV, Foulds N, Heimdal K, Hobson E, Houge G, Joss S, Kumar D, Lampe AK, Maystadt I, McKay V, Metcalfe K, Newbury-Ecob R, Park SM, Robert L, Rustad CF, Wakeling E, Wilkie AOM, Study TDDD, Twigg SRF, Suri M
J Med Genet 2018 Jan;55(1):28-38. Epub 2017 Oct 11 doi: 10.1136/jmedgenet-2017-104620. PMID: 29021403Free PMC Article
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA
Am J Med Genet A 2014 Feb;164A(2):291-304. Epub 2013 Nov 5 doi: 10.1002/ajmg.a.36248. PMID: 24194475
Noonan syndrome.
van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357Free PMC Article

Clinical prediction guides

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L
Brain 2024 Aug 1;147(8):2732-2744. doi: 10.1093/brain/awae160. PMID: 38753057
Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y
Eur J Obstet Gynecol Reprod Biol 2019 Sep;240:232-241. Epub 2019 Jul 16 doi: 10.1016/j.ejogrb.2019.06.035. PMID: 31336229
Noonan syndrome: introduction and basic clinical features.
Rohrer T
Horm Res 2009 Dec;72 Suppl 2:3-7. Epub 2009 Dec 22 doi: 10.1159/000243772. PMID: 20029230
Further characterization of the new microdeletion syndrome of 16p11.2-p12.2.
Battaglia A, Novelli A, Bernardini L, Igliozzi R, Parrini B
Am J Med Genet A 2009 Jun;149A(6):1200-4. doi: 10.1002/ajmg.a.32847. PMID: 19449418

Supplemental Content

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