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Lethal hydranencephaly-diaphragmatic hernia syndrome

MedGen UID:
1798950
•Concept ID:
C5567527
•
Disease or Syndrome
Synonyms: Lethal hydranencephaly, diaphragmatic hernia syndrome; lethal hydranencephaly-diaphragmatic hernia syndrome
SNOMED CT: Lethal hydranencephaly, diaphragmatic hernia syndrome (1172705006)
 
Monarch Initiative: MONDO:0018810
Orphanet: ORPHA480528

Definition

A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal hydranencephaly-diaphragmatic hernia syndrome

Professional guidelines

PubMed

Detection rates of a national fetal anomaly screening programme: A national cohort study.
Aldridge N, Pandya P, Rankin J, Miller N, Broughan J, Permalloo N, McHugh A, Stevens S
BJOG 2023 Jan;130(1):51-58. Epub 2022 Sep 12 doi: 10.1111/1471-0528.17287. PMID: 36054171
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Meckel syndrome: Clinical and mutation profile in six fetuses.
Radhakrishnan P, Nayak SS, Shukla A, Lindstrand A, Girisha KM
Clin Genet 2019 Dec;96(6):560-565. Epub 2019 Aug 21 doi: 10.1111/cge.13623. PMID: 31411728
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
Shaheen R, Shamseldin HE, Loucks CM, Seidahmed MZ, Ansari S, Ibrahim Khalil M, Al-Yacoub N, Davis EE, Mola NA, Szymanska K, Herridge W, Chudley AE, Chodirker BN, Schwartzentruber J, Majewski J, Katsanis N, Poizat C, Johnson CA, Parboosingh J, Boycott KM, Innes AM, Alkuraya FS
Am J Hum Genet 2014 Jan 2;94(1):73-9. Epub 2013 Dec 19 doi: 10.1016/j.ajhg.2013.11.010. PMID: 24360803Free PMC Article
Fryns syndrome: a surviving case with associated Hirschsprung's disease and hemidiaphragmatic agenesis.
Davis C, Samarakkody U
J Paediatr Child Health 2002 Jun;38(3):318-20. doi: 10.1046/j.1440-1754.2002.00820.x. PMID: 12047706
Reoperation for disruption and recurrence after Nissen fundoplication.
Hill LD, Ilves R, Stevenson JK, Pearson JM
Arch Surg 1979 Apr;114(4):542-8. doi: 10.1001/archsurg.1979.01370280196033. PMID: 435071

Diagnosis

Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome.
Rico Rodríguez F, Camargo Espitia DA, Mayoral Márquez A, Ruan Lin S, Martín Lorenzo MC
Rev Esp Anestesiol Reanim (Engl Ed) 2024 Jan;71(1):54-57. Epub 2023 Sep 6 doi: 10.1016/j.redare.2023.03.004. PMID: 37678455
A rare case of Meckel-Gruber syndrome.
Chiriac DV, Hogea LM, Bredicean AC, Rednic R, Nussbaum LA, Hogea GB, Grigoraş ML
Rom J Morphol Embryol 2017;58(3):1023-1027. PMID: 29250684
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS
Hum Mol Genet 2015 Sep 15;24(18):5211-8. Epub 2015 Jun 29 doi: 10.1093/hmg/ddv242. PMID: 26123494
Neurosurgical management of Walker-Warburg syndrome.
Martínez-Lage JF, García Santos JM, Poza M, Puche A, Casas C, Rodriguez Costa T
Childs Nerv Syst 1995 Mar;11(3):145-53. doi: 10.1007/BF00570255. PMID: 7773974

Therapy

Abdominal compartment syndrome -- a major complication of large incisional hernia surgery.
Mavrodin CI, Pariza G, Ion D, Antoniac VI
Chirurgia (Bucur) 2013 May-Jun;108(3):414-7. PMID: 23790795
Decreased use of neonatal extracorporeal membrane oxygenation (ECMO): how new treatment modalities have affected ECMO utilization.
Hintz SR, Suttner DM, Sheehan AM, Rhine WD, Van Meurs KP
Pediatrics 2000 Dec;106(6):1339-43. doi: 10.1542/peds.106.6.1339. PMID: 11099586
Very low birth weight infants--mortality and predictive risk factors.
Chye JK, Lim CT
Singapore Med J 1999 Sep;40(9):565-70. PMID: 10628243
Pulmonary barotrauma in congenital diaphragmatic hernia: a clinicopathological correlation.
Sakurai Y, Azarow K, Cutz E, Messineo A, Pearl R, Bohn D
J Pediatr Surg 1999 Dec;34(12):1813-7. doi: 10.1016/s0022-3468(99)90319-6. PMID: 10626861
VACTERL association, epidemiologic definition and delineation.
Rittler M, Paz JE, Castilla EE
Am J Med Genet 1996 Jun 28;63(4):529-36. doi: 10.1002/(SICI)1096-8628(19960628)63:4<529::AID-AJMG4>3.0.CO;2-J. PMID: 8826430

Prognosis

Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome.
Rico Rodríguez F, Camargo Espitia DA, Mayoral Márquez A, Ruan Lin S, Martín Lorenzo MC
Rev Esp Anestesiol Reanim (Engl Ed) 2024 Jan;71(1):54-57. Epub 2023 Sep 6 doi: 10.1016/j.redare.2023.03.004. PMID: 37678455
Meckel-Gruber Syndrome: A Case Who Lived for 5 Months.
Aydin Ozturk P, Asena M, Katar S, Ozturk U
Pediatr Neurosurg 2019;54(4):277-280. Epub 2019 Jul 1 doi: 10.1159/000500766. PMID: 31261150
A review of Meckel-Gruber syndrome--incidence and outcome in the state of Qatar.
Al-Belushi M, Al Ibrahim A, Ahmed M, Ahmed B, Khenyab N, Konje JC
J Matern Fetal Neonatal Med 2016;29(12):2013-6. Epub 2015 Aug 26 doi: 10.3109/14767058.2015.1072162. PMID: 26333300
Meckel-Gruber syndrome.
Ramachandran U, Malla T, Joshi KS
Kathmandu Univ Med J (KUMJ) 2006 Jul-Sep;4(3):334-6. PMID: 18603929
Warburg syndrome.
Levine RA, Gray DL, Gould N, Pergament E, Stillerman ML
Ophthalmology 1983 Dec;90(12):1600-3. doi: 10.1016/s0161-6420(83)34345-1. PMID: 6677860

Clinical prediction guides

Anesthetic considerations in the perioperative management of the patient with Jarcho-Levin Syndrome.
Rico Rodríguez F, Camargo Espitia DA, Mayoral Márquez A, Ruan Lin S, Martín Lorenzo MC
Rev Esp Anestesiol Reanim (Engl Ed) 2024 Jan;71(1):54-57. Epub 2023 Sep 6 doi: 10.1016/j.redare.2023.03.004. PMID: 37678455
Congenital diaphragmatic hernia and early lethality in PIGL-related disorder.
Winter-Paquette LM, Al Suwaidi HH, Sajjad Y, Bricker L
Eur J Med Genet 2022 May;65(5):104501. Epub 2022 Apr 1 doi: 10.1016/j.ejmg.2022.104501. PMID: 35378319
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors.
Dentici ML, Brancati F, Mingarelli R, Dallapiccola B
Eur J Med Genet 2009 Nov-Dec;52(6):421-5. Epub 2009 Oct 1 doi: 10.1016/j.ejmg.2009.09.008. PMID: 19800039
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle.
Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M
Am J Hum Genet 2008 Jun;82(6):1361-7. doi: 10.1016/j.ajhg.2008.05.004. PMID: 18513680Free PMC Article
The anterior segment anomalies in the Warburg syndrome. A study of new cases.
Alfieri G, Campana G, Valentini G, Giovannucci-Uzielli ML, Lapi E
Ophthalmic Paediatr Genet 1985 Dec;6(3):141-8. doi: 10.3109/13816818509087633. PMID: 4094729

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