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Flat nasal alae

MedGen UID:
869333
•Concept ID:
C4023759
•
Finding
Synonyms: Depressed nasal alae; Flat nasal alar cartilage
 
HPO: HP:0010649

Definition

An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Flat nasal alae

Conditions with this feature

Holoprosencephaly 7
MedGen UID:
372134
•Concept ID:
C1835820
•
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
See: Condition Record
Holoprosencephaly 7

Recent clinical studies

Etiology

The Harvest of a Lateral Segment of Costal Cartilage for Treating Nasal Deformities.
Jiang J, Fan XH, Yue L, Jia ZY, Yang W, Zhao YZ, Liu JL, Liu YQ, Zhang YH
J Craniofac Surg 2021 Mar-Apr 01;32(2):744-748. doi: 10.1097/SCS.0000000000007472. PMID: 33705025
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D
Hum Genet 2015 Jan;134(1):97-109. Epub 2014 Oct 19 doi: 10.1007/s00439-014-1498-1. PMID: 25326669
Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.
Gupta N, Ghosh M, Shukla R, Das GP, Kabra M
Clin Dysmorphol 2012 Jul;21(3):113-117. doi: 10.1097/MCD.0b013e32835439cd. PMID: 22581171
MOC-PS(SM) CME article: late cleft lip nasal deformity.
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379
A peculiar malformation of the upper lip: report of six cases.
Tange I
Cleft Palate Craniofac J 1997 Jan;34(1):73-8. doi: 10.1597/1545-1569_1997_034_0073_apmotu_2.3.co_2. PMID: 9003916

Diagnosis

Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK
Ann Clin Lab Sci 2018 Nov;48(6):776-781. PMID: 30610049

Therapy

MOC-PS(SM) CME article: late cleft lip nasal deformity.
Guyuron B
Plast Reconstr Surg 2008 Apr;121(4 Suppl):1-11. doi: 10.1097/01.prs.0000305955.67554.40. PMID: 18379379

Prognosis

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, van Bokhoven H, van den Boogaard MJ, Bramswig N, Büttner C, Cremer K, Czeschik JC, Engels H, van Gassen K, Graf E, van Haelst M, He W, Hogue JS, Kempers M, Koolen D, Monroe G, de Munnik S, Pastore M, Reis A, Reuter MS, Tegay DH, Veltman J, Visser G, van Hasselt P, Smeets EE, Vissers L, Wieland T, Wissink W, Yntema H, Zink AM, Strom TM, Lüdecke HJ, Kleefstra T, Wieczorek D
Hum Genet 2015 Jan;134(1):97-109. Epub 2014 Oct 19 doi: 10.1007/s00439-014-1498-1. PMID: 25326669
A peculiar malformation of the upper lip: report of six cases.
Tange I
Cleft Palate Craniofac J 1997 Jan;34(1):73-8. doi: 10.1597/1545-1569_1997_034_0073_apmotu_2.3.co_2. PMID: 9003916

Clinical prediction guides

A peculiar malformation of the upper lip: report of six cases.
Tange I
Cleft Palate Craniofac J 1997 Jan;34(1):73-8. doi: 10.1597/1545-1569_1997_034_0073_apmotu_2.3.co_2. PMID: 9003916
Anthropometric and anthroposcopic findings of the nasal and facial region in cleft patients before and after primary lip and palate repair.
Farkas LG, Hajnis K, Posnick JC
Cleft Palate Craniofac J 1993 Jan;30(1):1-12. doi: 10.1597/1545-1569_1993_030_0001_aaafot_2.3.co_2. PMID: 8418865

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