Low-set, posteriorly rotated ears

MedGen UID:: 387834
•Concept ID:: C1857486
•: Finding

Synonym:	Low-set posteriorly rotated ears

HPO:	HP:0000368

Definition

Ears that are low-set and posteriorly rotated. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLow-set, posteriorly rotated ears

Ear malformation
- Abnormal ear morphology
  - Abnormality of the outer ear
    - Abnormal pinna morphology
      - Abnormal location of ears
        Low-set ears
        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: 32164556 Free 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

See all (4)

Diagnosis

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

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

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: 19267933 Free 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: 17222357 Free PMC Article

See all (16)

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: 29021403 Free PMC Article

TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

Noonan syndrome.

van der Burgt I
Orphanet J Rare Dis 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. PMID: 17222357 Free PMC Article

See all (6)

Clinical prediction guides

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

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.

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

See all (7)