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Abnormal nasal bridge morphology

MedGen UID:: 867431
•Concept ID:: C4021805
•: Anatomical Abnormality

Synonym:	Abnormality of the nasal bridge

HPO:	HP:0000422

Definition

Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal nasal bridge morphology

Phenotypic abnormality
- Abnormality of head or neck
  - Abnormality of the head
    - Abnormality of the face
      - Abnormality of the nose
        Abnormal nasal morphology
        Abnormal nasal bridge morphology
        Absent nasal bridge
        Depressed nasal bridge
        Hypoplastic nasal bridge
        Long nasal bridge
        Narrow nasal bridge
        Prominent nasal bridge
        Short nasal bridge
        Wide nasal bridge

Conditions with this feature

Branched-chain keto acid dehydrogenase kinase deficiency

MedGen UID:: 766992
•Concept ID:: C3554078
•: Disease or Syndrome

Branched-chain ketoacid dehydrogenase kinase deficiency (BCKDKD) is a neurodevelopmental disorder characterized by autism, impaired intellectual development, and microcephaly (Tangeraas et al., 2023).

See: Condition Record

Branched-chain keto acid dehydrogenase kinase deficiency

Professional guidelines

PubMed

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Fleming L, Lemmon M, Beck N, Johnson M, Mu W, Murdock D, Bodurtha J, Hoover-Fong J, Cohn R, Bosemani T, Barañano K, Hamosh A
Am J Med Genet A 2016 Jan;170A(1):77-86. Epub 2015 Sep 23 doi: 10.1002/ajmg.a.37369. PMID: 26394714 Free PMC Article

Mulibrey nanism: clinical features and diagnostic criteria.

Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M
J Med Genet 2004 Feb;41(2):92-8. doi: 10.1136/jmg.2003.014118. PMID: 14757854 Free PMC Article

Prenatal sonographic diagnosis of Aarskog syndrome.

Sepulveda W, Dezerega V, Horvath E, Aracena M
J Ultrasound Med 1999 Oct;18(10):707-10. doi: 10.7863/jum.1999.18.10.707. PMID: 10511304

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Recent clinical studies

Etiology

Histopathologic features of nasal glial heterotopia (nasal glioma).

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Childs Nerv Syst 2022 Jan;38(1):63-75. Epub 2021 Sep 25 doi: 10.1007/s00381-021-05369-4. PMID: 34562130

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D
Eur J Pediatr 2022 Jan;181(1):171-187. Epub 2021 Jul 7 doi: 10.1007/s00431-021-04108-w. PMID: 34232366 Free PMC Article

Neu Laxova syndrome.

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883

Nasal glial heterotopia: a clinicopathologic and immunophenotypic analysis of 10 cases with a review of the literature.

Penner CR, Thompson L
Ann Diagn Pathol 2003 Dec;7(6):354-9. doi: 10.1016/j.anndiagpath.2003.09.010. PMID: 15018118

Clinical and Molecular genetics of Stickler syndrome.

Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778 Free PMC Article

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Diagnosis

An orthodontic perspective on Larsen syndrome.

Yasunaga M, Ishikawa H, Yanagita K, Tamaoki S
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Three-dimensional facial morphology in Cantú syndrome.

Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM
Am J Med Genet A 2020 May;182(5):1041-1052. Epub 2020 Feb 26 doi: 10.1002/ajmg.a.61517. PMID: 32100467 Free PMC Article

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

Alpha-mannosidosis.

Malm D, Nilssen Ø
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Cri du Chat syndrome.

Cerruti Mainardi P
Orphanet J Rare Dis 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33. PMID: 16953888 Free PMC Article

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Therapy

Bevacizumab for treating Hereditary Hemorrhagic Telangiectasia patients with severe hepatic involvement or refractory anemia.

Vázquez C, Gonzalez ML, Ferraris A, Bandi JC, Serra MM
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Fetal warfarin syndrome.

Hou JW
Chang Gung Med J 2004 Sep;27(9):691-5. PMID: 15605910

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

Plaja A, Vendrell T, Smeets D, Sarret E, Gili T, Català V, Mediano C, Scheres JM
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Apparent cyclophosphamide (cytoxan) embryopathy: a distinct phenotype?

Enns GM, Roeder E, Chan RT, Ali-Khan Catts Z, Cox VA, Golabi M
Am J Med Genet 1999 Sep 17;86(3):237-41. PMID: 10482872

Verification of the fetal valproate syndrome phenotype.

Ardinger HH, Atkin JF, Blackston RD, Elsas LJ, Clarren SK, Livingstone S, Flannery DB, Pellock JM, Harrod MJ, Lammer EJ
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Prognosis

Neu Laxova syndrome.

Dwivedi T, Gosavi M
Indian J Pathol Microbiol 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. PMID: 30706883

Robinow syndrome: a diagnosis at the fingertips.

Murali CN, Keena B, Zackai EH
Clin Dysmorphol 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. PMID: 29864040 Free PMC Article

Alpha-mannosidosis.

Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971 Free PMC Article

Cri du Chat syndrome.

Cerruti Mainardi P
Orphanet J Rare Dis 2006 Sep 5;1:33. doi: 10.1186/1750-1172-1-33. PMID: 16953888 Free PMC Article

Short rib-polydactyly syndrome.

Naki MM, Gür D, Zemheri E, Tekcan C, Kanadikirik F, Has R
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Clinical prediction guides

Histopathologic features of nasal glial heterotopia (nasal glioma).

Gilani A, Kleinschmidt-DeMasters BK
Childs Nerv Syst 2022 Jan;38(1):63-75. Epub 2021 Sep 25 doi: 10.1007/s00381-021-05369-4. PMID: 34562130

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.

Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S
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Kucuk Ş, Kucuk İG
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Paskulin GA, Gazzola Zen PR, de Camargo Pinto LL, Rosa R, Graziadio C
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Recent systematic reviews

A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.

Corcuera-Flores JR, Casttellanos-Cosano L, Torres-Lagares D, Serrera-Figallo MÁ, Rodríguez-Caballero Á, Machuca-Portillo G
Clin Anat 2016 Jul;29(5):555-60. Epub 2015 Dec 21 doi: 10.1002/ca.22654. PMID: 26457586

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Abnormal nasal bridge morphology

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

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Reviews

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