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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]

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: 26394714Free 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: 14757854Free 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

Recent clinical studies

Etiology

Secondary Bilateral Cleft Rhinoplasty: Achieving an Aesthetic Result.
Saito T, Lo CC, Tu JC, Hattori Y, Chou PY, Lo LJ
Aesthet Surg J 2024 May 15;44(6):NP365-NP378. doi: 10.1093/asj/sjae019. PMID: 38314894
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.
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: 34232366Free 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
Clinical and Molecular genetics of Stickler syndrome.
Snead MP, Yates JR
J Med Genet 1999 May;36(5):353-9. PMID: 10353778Free PMC Article

Diagnosis

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
Binder's syndrome.
Jain U, Thakur G, Kallury A
BMJ Case Rep 2011 Oct 11;2011 doi: 10.1136/bcr.08.2011.4665. PMID: 22675013Free 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: 19267933Free 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: 18651971Free 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: 16953888Free PMC Article

Therapy

Secondary Bilateral Cleft Rhinoplasty: Achieving an Aesthetic Result.
Saito T, Lo CC, Tu JC, Hattori Y, Chou PY, Lo LJ
Aesthet Surg J 2024 May 15;44(6):NP365-NP378. doi: 10.1093/asj/sjae019. PMID: 38314894
Laser light scan analysis of the "anticonvulsant face".
Orup HI Jr, Deutsch CK, Holmes LB
Birth Defects Res A Clin Mol Teratol 2014 Dec;100(12):905-11. Epub 2014 May 27 doi: 10.1002/bdra.23250. PMID: 24863698Free PMC Article
Orofacial lesions in treated central Indian leprosy patients: a cross sectional study with review of literature.
Rawalani SM, Gummadapu S, Motwani M, Bhowate R, Rawalani S
Indian J Lepr 2008 Apr-Jun;80(2):161-5. PMID: 19425511
Fetal warfarin syndrome.
Hou JW
Chang Gung Med J 2004 Sep;27(9):691-5. PMID: 15605910
The fetal valproate syndrome.
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

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
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.
Paradowska-Stolarz AM
Adv Clin Exp Med 2014 May-Jun;23(3):485-9. doi: 10.17219/acem/24111. PMID: 24979523
Cat eye syndrome.
Sharma D, Murki S, Pratap T, Vasikarla M
BMJ Case Rep 2014 May 19;2014 doi: 10.1136/bcr-2014-203923. PMID: 24842361Free 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: 18651971Free 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: 16953888Free PMC Article

Clinical prediction guides

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M
Eur J Hum Genet 2024 Aug;32(8):954-963. Epub 2024 Jun 1 doi: 10.1038/s41431-024-01642-7. PMID: 38824261Free PMC Article
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.
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: 34232366Free PMC Article
Wolf-Hirschhorn syndrome (WHS) - literature review on the features of the syndrome.
Paradowska-Stolarz AM
Adv Clin Exp Med 2014 May-Jun;23(3):485-9. doi: 10.17219/acem/24111. PMID: 24979523
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr
J Med Genet 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. PMID: 3050099Free PMC Article

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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