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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

Congenital diaphragmatic hernia repair analysis in relation to postoperative abdominal compartment syndrome and delayed abdominal closure.
da Costa KM, Saxena AK
Updates Surg 2021 Dec;73(6):2059-2064. Epub 2021 Jan 28 doi: 10.1007/s13304-021-00980-1. PMID: 33507516
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
Intestinal Rotation Anomalies.
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672
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
von Voss-Cherstvoy syndrome: a variable perinatally lethal syndrome of multiple congenital anomalies.
Lubinsky MS, Kahler SG, Speer IE, Hoyme HE, Kirillova IA, Lurie IW
Am J Med Genet 1994 Sep 1;52(3):272-8. doi: 10.1002/ajmg.1320520305. PMID: 7810558

Diagnosis

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
Congenital diaphragmatic hernia repair analysis in relation to postoperative abdominal compartment syndrome and delayed abdominal closure.
da Costa KM, Saxena AK
Updates Surg 2021 Dec;73(6):2059-2064. Epub 2021 Jan 28 doi: 10.1007/s13304-021-00980-1. PMID: 33507516
Immediate versus staged repair of omphaloceles.
Skarsgard ED
Semin Pediatr Surg 2019 Apr;28(2):89-94. Epub 2019 Apr 6 doi: 10.1053/j.sempedsurg.2019.04.010. PMID: 31072464
Intestinal Rotation Anomalies.
Pelayo JC, Lo A
Pediatr Ann 2016 Jul 1;45(7):e247-50. doi: 10.3928/00904481-20160602-01. PMID: 27403672
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

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
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
Prognostic determinants in extracorporeal membrane oxygenation for respiratory failure in newborns.
Weber TR, Connors RH, Tracy TF Jr, Bailey PV, Stephens C, Keenan W
Ann Thorac Surg 1990 Nov;50(5):720-3. doi: 10.1016/0003-4975(90)90669-w. PMID: 2241330

Prognosis

Extracardiac anomalies in prenatally diagnosed heterotaxy syndrome.
Gottschalk I, Stressig R, Ritgen J, Herberg U, Breuer J, Vorndamme A, Strizek B, Willruth A, Geipel A, Gembruch U, Berg C
Ultrasound Obstet Gynecol 2016 Apr;47(4):443-9. Epub 2016 Mar 4 doi: 10.1002/uog.14871. PMID: 25847110
Plurimalformative syndrome associating trisomy 18 and omphalocele. Case report and review of the literature.
Ţarcă E, Plămădeală P, Savu B
Rom J Morphol Embryol 2014;55(1):209-13. PMID: 24715190
Acute oesophageal necrosis syndrome.
Garas G, Wou C, Sawyer J, Amygdalos I, Gould S
BMJ Case Rep 2011 Mar 3;2011 doi: 10.1136/bcr.10.2010.3423. PMID: 22715255Free PMC Article
Fryns syndrome in children with congenital diaphragmatic hernia.
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Langham MR Jr, Lally KP; Congenital Diaphragmatic Hernia Study Group
J Pediatr Surg 2002 Dec;37(12):1685-7. doi: 10.1053/jpsu.2002.36695. PMID: 12483630
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

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
Prenatal ultrasound, genotype, and outcome in a large cohort of prenatally affected patients with autosomal-recessive polycystic kidney disease and other hereditary cystic kidney diseases.
Erger F, Brüchle NO, Gembruch U, Zerres K
Arch Gynecol Obstet 2017 Apr;295(4):897-906. Epub 2017 Mar 10 doi: 10.1007/s00404-017-4336-6. PMID: 28283827
Meckel Gruber syndrome, A case report.
Aslan K, Külahçı Aslan E, Orhan A, Atalay MA
Organogenesis 2015;11(2):87-92. Epub 2015 Jun 2 doi: 10.1080/15476278.2015.1055431. PMID: 26037304Free PMC Article
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
Hunter AG, Seaver LH, Stevenson RE
Am J Med Genet A 2011 Sep;155A(9):2045-59. Epub 2011 Aug 3 doi: 10.1002/ajmg.a.34161. PMID: 21815262
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

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