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Bifid epiglottis

MedGen UID:
137932
•Concept ID:
C0339864
•
Congenital Abnormality
SNOMED CT: Bifid epiglottis (232412004)
 
HPO: HP:0010564

Definition

A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. [from HPO]

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
•Concept ID:
C0265220
•
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
See: Condition Record
Bamforth-Lazarus syndrome
MedGen UID:
343420
•Concept ID:
C1855794
•
Disease or Syndrome
Bamforth-Lazarus syndrome (BAMLAZ) is a rare autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis (summary by Sarma et al., 2022).
See: Condition Record
Bamforth-Lazarus syndrome
Pallister-Hall syndrome

Professional guidelines

PubMed

New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article

Recent clinical studies

Etiology

New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Spectrum of Human Foxe1/TTF2 Mutations.
Castanet M, Polak M
Horm Res Paediatr 2010;73(6):423-9. Epub 2010 May 6 doi: 10.1159/000281438. PMID: 20453517
Bifid epiglottis: syndromic constituent rather than isolated anomaly.
Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G
Pediatr Int 2010 Oct;52(5):723-8. doi: 10.1111/j.1442-200X.2010.03096.x. PMID: 20149127
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome.
Azzam A, Lerner DM, Peters KF, Wiggs E, Rosenstein DL, Biesecker LG
Clin Genet 2005 Jan;67(1):87-92. doi: 10.1111/j.1399-0004.2005.00370.x. PMID: 15617553
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104

Diagnosis

Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Bifid epiglottis: syndromic constituent rather than isolated anomaly.
Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G
Pediatr Int 2010 Oct;52(5):723-8. doi: 10.1111/j.1442-200X.2010.03096.x. PMID: 20149127
Bifid epiglottis.
Goldenberg JD, Holinger LD, Bressler FJ, Hutchinson LR
Ann Otol Rhinol Laryngol 1996 Feb;105(2):155-7. doi: 10.1177/000348949610500211. PMID: 8659937

Therapy

Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis.
Kaur P, Chaudhry C, Neelam H, Panigrahi I
BMJ Case Rep 2021 Jan 28;14(1) doi: 10.1136/bcr-2020-236325. PMID: 33509858Free PMC Article

Prognosis

Total colonic aganglionosis and imperforate anus in a severely affected infant with Pallister-Hall syndrome.
Li MH, Eberhard M, Mudd P, Javia L, Zimmerman R, Khalek N, Zackai EH
Am J Med Genet A 2015 Mar;167A(3):617-20. Epub 2015 Jan 21 doi: 10.1002/ajmg.a.36915. PMID: 25604768
Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.
Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK
J Clin Endocrinol Metab 2010 Aug;95(8):4031-6. Epub 2010 May 19 doi: 10.1210/jc.2010-0275. PMID: 20484477
Bifid epiglottis: syndromic constituent rather than isolated anomaly.
Tsurumi H, Ito M, Ishikura K, Hataya H, Ikeda M, Honda M, Nishimura G
Pediatr Int 2010 Oct;52(5):723-8. doi: 10.1111/j.1442-200X.2010.03096.x. PMID: 20149127
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104
Bifid epiglottis. Report of a case.
DelMonico ML, Haar JG
Arch Otolaryngol 1972 Aug;96(2):178-81. doi: 10.1001/archotol.1972.00770090252020. PMID: 5081924

Clinical prediction guides

Pallister-Hall syndrome, GLI3, and kidney malformation.
McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
New insights into genotype-phenotype correlation for GLI3 mutations.
Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quélin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbané A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, André G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Geneviève D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T
Eur J Hum Genet 2015 Jan;23(1):92-102. Epub 2014 Apr 16 doi: 10.1038/ejhg.2014.62. PMID: 24736735Free PMC Article
Spectrum of Human Foxe1/TTF2 Mutations.
Castanet M, Polak M
Horm Res Paediatr 2010;73(6):423-9. Epub 2010 May 6 doi: 10.1159/000281438. PMID: 20453517
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG
Am J Med Genet A 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. PMID: 14708104
Bifid epiglottis syndrome.
Sturgis EM, Howell LL
Int J Pediatr Otorhinolaryngol 1995 Oct;33(2):149-57. doi: 10.1016/0165-5876(95)01193-f. PMID: 7499047

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