U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Diaphragmatic eventration

MedGen UID:
8359
Concept ID:
C0011981
Congenital Abnormality; Finding
Synonym: Diaphragmatic eventration (disease)
SNOMED CT: Diaphragmatic eventration (34168003)
 
HPO: HP:0009110
Monarch Initiative: MONDO:0006726

Definition

A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Diaphragmatic eventration

Conditions with this feature

Autosomal recessive multiple pterygium syndrome
MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types.
Severe X-linked myotubular myopathy
MedGen UID:
98374
Concept ID:
C0410203
Congenital Abnormality
X-linked myotubular myopathy (X-MTM), also known as myotubular myopathy (MTM), is characterized by muscle weakness that ranges from severe to mild. Approximately 80% of affected males present with severe (classic) X-MTM characterized by polyhydramnios, decreased fetal movement, and neonatal weakness, hypotonia, and respiratory failure. Motor milestones are significantly delayed and most individuals fail to achieve independent ambulation. Weakness is profound and often involves facial and extraocular muscles. Respiratory failure is nearly uniform, with most individuals requiring 24-hour ventilatory assistance. It is estimated that at least 25% of boys with severe X-MTM die in the first year of life, and those who survive rarely live into adulthood. Males with mild or moderate X-MTM (~20%) achieve motor milestones more quickly than males with the severe form; many ambulate independently, and may live into adulthood. Most require gastrostomy tubes and/or ventilator support. In all subtypes of X-MTM, the muscle disease is not obviously progressive. Female carriers of X-MTM are generally asymptomatic, although manifesting heterozygotes are increasingly being identified. In affected females, symptoms range from severe, generalized weakness presenting in childhood, with infantile onset similar to affected male patients, to mild (often asymmetric) weakness manifesting in adulthood. Affected adult females may experience progressive respiratory decline and ultimately require ventilatory support.
Lowry-MacLean syndrome
MedGen UID:
167095
Concept ID:
C0796020
Disease or Syndrome
A very rare syndrome with characteristics of microcephaly, craniosynostosis, glaucoma, growth failure and visceral malformations. Only three cases have been reported in the literature in three unrelated families. Dysmorphic features include trigonocephaly, exotropia, cleft palate, beaked nose and low-set ears. All the affected patients have associated congenital visceral malformations including congenital heart defects, diaphragmatic hernia, genital or cerebral abnormalities. The demonstration of congenital glaucoma, hallmark of the syndrome, in the father of an affected patient, supports autosomal dominant inheritance. Prognosis is poor.
Matthew-Wood syndrome
MedGen UID:
318679
Concept ID:
C1832661
Disease or Syndrome
Syndromic microphthalmia-9, also referred to as pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect, is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The phenotype is variable, ranging from isolated clinical anophthalmia or microphthalmia to complex presentations involving the cardiac, pulmonary, diaphragmatic, and renal systems. At its most severe, infants are born without pulmonary structures and die soon after birth (Marcadier et al., 2015).
Meacham syndrome
MedGen UID:
373234
Concept ID:
C1837026
Disease or Syndrome
WT1 disorder is characterized by congenital/infantile or childhood onset of steroid-resistant nephrotic syndrome (SRNS), a progressive glomerulopathy that does not respond to standard steroid therapy. Additional common findings can include disorders of testicular development (with or without abnormalities of the external genitalia and/or müllerian structures) and Wilms tumor. Less common findings are congenital anomalies of the kidney and urinary tract (CAKUT) and gonadoblastoma. While various combinations of renal and other findings associated with a WT1 pathogenic variant were designated as certain syndromes in the past, those designations are now recognized to be part of a phenotypic continuum and are no longer clinically helpful.
Donnai-Barrow syndrome
MedGen UID:
347406
Concept ID:
C1857277
Disease or Syndrome
Donnai-Barrow syndrome (DBS) is characterized by typical craniofacial features (large anterior fontanelle, wide metopic suture, widow's peak, markedly widely spaced eyes, enlarged globes, downslanted palpebral fissures, posteriorly rotated ears, depressed nasal bridge, and short nose. Ocular complications include high myopia, retinal detachment, retinal dystrophy, and progressive vision loss. Additional common features include agenesis of the corpus callosum, sensorineural hearing loss, intellectual disability, and congenital diaphragmatic hernia and/or omphalocele. Both inter- and intrafamilial phenotypic variability are observed.
3-methylglutaconic aciduria type 5
MedGen UID:
347542
Concept ID:
C1857776
Disease or Syndrome
3-Methylglutaconic aciduria type V (MGCA5) is an autosomal recessive disorder characterized by the onset of dilated or noncompaction cardiomyopathy in infancy or early childhood. Many patients die of cardiac failure. Other features include microcytic anemia, growth retardation, mild ataxia, mild muscle weakness, genital anomalies in males, and increased urinary excretion of 3-methylglutaconic acid. Some patients may have optic atrophy or delayed psychomotor development (summary by Davey et al., 2006 and Ojala et al., 2012). For a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950).
Autosomal recessive distal spinal muscular atrophy 1
MedGen UID:
388083
Concept ID:
C1858517
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-1 (HMNR1) is characterized by distal and proximal muscle weakness and diaphragmatic palsy that leads to respiratory distress. Without intervention, most infants with the severe form of the disease die before 2 years of age. Affected individuals present in infancy with inspiratory stridor, weak cry, recurrent bronchopneumonia, and swallowing difficulties. The disorder is caused by distal and progressive motor neuronopathy resulting in muscle weakness (summary by Perego et al., 2020). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy See also HMNR2 (605726), caused by mutation in the SIGMAR1 gene (601978); HMNR3 (607088) (encompassing Harding HMN types III and IV), which maps to chromosome 11q13; HMNR4 (611067), caused by mutation in the PLEKHG5 gene (611101); HMNR5 (614881), caused by mutation in the DNAJB2 gene (604139); HMNR6 (620011), caused by mutation in the REEP1 gene (609139); HMNR7 (619216), caused by mutation in the VWA1 gene (611901); HMNR8 (618912), caused by mutation in the SORD gene (182500); HMNR9 (620402), caused by mutation in the COQ7 gene (601683); and HMRN10 (620542), caused by mutation in the VRK1 gene (602168).
Bone fragility with contractures, arterial rupture, and deafness
MedGen UID:
382811
Concept ID:
C2676285
Disease or Syndrome
Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.
MEGF10-related myopathy
MedGen UID:
482309
Concept ID:
C3280679
Disease or Syndrome
Congenital myopathy-10A (CMYP10A) is a severe autosomal recessive skeletal muscle disorder characterized by generalized hypotonia, respiratory insufficiency, and poor feeding apparent from birth. Decreased fetal movements may be observed. More variable features include high-arched palate, distal joint contractures, foot deformities, scoliosis, areflexia, and dysphagia. Many patients show eventration of the diaphragm. Affected individuals become ventilator-dependent in the first months or years of life and never achieve walking; many die in childhood (Logan et al., 2011). Patients with more damaging mutations in the MEGF10 gene, including nonsense or frameshift null mutations, show the more severe phenotype (CMYP10A), whereas those with missense mutations affecting conserved cysteine residues in the EGF-like domain show the less severe phenotype with later onset of respiratory failure and minicores on muscle biopsy (CMYP10B) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
MEGF8-related Carpenter syndrome
MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000.
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
MedGen UID:
816301
Concept ID:
C3809971
Disease or Syndrome
Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern.
Spinal muscular atrophy with congenital bone fractures 1
MedGen UID:
896011
Concept ID:
C4225177
Disease or Syndrome
Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia with fetal hypokinesia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first days or months of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone Fractures See also SMABF2 (616867), caused by mutation in the ASCC1 gene (614215) on chromosome 10q22.
Coffin-Siris syndrome 6
MedGen UID:
1615540
Concept ID:
C4540499
Disease or Syndrome
Coffin-Siris syndrome (CSS) is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hirsutism/hypertrichosis, and sparse scalp hair. Congenital anomalies can include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment.
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies
MedGen UID:
1764743
Concept ID:
C5436530
Disease or Syndrome
Congenital myopathy-17 (CMYP17) is an autosomal recessive muscle disorder. Affected individuals present at birth with hypotonia and respiratory insufficiency associated with high diaphragmatic dome on imaging. Other features include poor overall growth, pectus excavatum, dysmorphic facies, and renal anomalies in some. The severity of the disorder is highly variable: some patients may have delayed motor development with mildly decreased endurance, whereas others have more severe hypotonia associated with distal arthrogryposis and lung hypoplasia, resulting in early death (summary by Watson et al., 2016 and Lopes et al., 2018). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).
Neurodevelopmental disorder with hypotonia and dysmorphic facies
MedGen UID:
1794184
Concept ID:
C5561974
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and dysmorphic facies (NEDHYDF) is characterized by global developmental delay and hypotonia apparent from birth. Affected individuals have variably impaired intellectual development, often with speech delay and delayed walking. Seizures are generally not observed, although some patients may have single seizures or late-onset epilepsy. Most patients have prominent dysmorphic facial features. Additional features may include congenital cardiac defects (without arrhythmia), nonspecific renal anomalies, joint contractures or joint hyperextensibility, dry skin, and cryptorchidism. There is significant phenotypic variability in both the neurologic and extraneurologic manifestations (summary by Tan et al., 2022).
Spinal muscular atrophy, distal, autosomal recessive, 6
MedGen UID:
1823974
Concept ID:
C5774201
Disease or Syndrome
Autosomal recessive distal hereditary motor neuronopathy-6 (HMNR6) is a neuromuscular disorder characterized by onset of distal muscle weakness in early infancy. Affected individuals often present at birth with distal joint contractures or foot deformities and show delayed motor development, often with inability to walk or frequent falls. Hypo- or hyperreflexia may be observed; limb muscle atrophy may also be present. Patients often show respiratory distress or diaphragmatic palsy. Electrophysiologic studies are consistent with a peripheral motor neuropathy without sensory involvement (Maroofian et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive distal HMN, see HMNR1 (604320).
Diaphragmatic hernia 4, with cardiovascular defects
MedGen UID:
1823983
Concept ID:
C5774210
Disease or Syndrome
Diaphragmatic hernia-4 with cardiovascular defects (DIH4) is an autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Affected infants have associated pulmonary hypoplasia and respiratory insufficiency resulting in death in infancy. Most also have variable cardiovascular defects, including aortopulmonary window or conotruncal anomalies. Dysmorphic facial features and mild distal limb anomalies are sometimes observed (Beecroft et al., 2021). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340).

Professional guidelines

PubMed

Iskender C, Tarım E, Yalcınkaya C
J Obstet Gynaecol Res 2012 May;38(5):858-62. doi: 10.1111/j.1447-0756.2011.01831.x. PMID: 22519886
Yang JI
J Clin Ultrasound 2003 May;31(4):214-7. doi: 10.1002/jcu.10157. PMID: 12692831
Flageole H
Semin Pediatr Surg 2003 Feb;12(1):38-45. doi: 10.1053/spsu.2003.50004. PMID: 12520471

Recent clinical studies

Etiology

Aihole JS
Afr J Paediatr Surg 2021 Jul-Sep;18(3):133-138. doi: 10.4103/ajps.AJPS_29_20. PMID: 34341195Free PMC Article
Xu PP, Chang XP, Tang ST, Li S, Cao GQ, Zhang X, Chi SQ, Fang MJ, Yang DH, Li XY
J Pediatr Surg 2020 Dec;55(12):2787-2790. Epub 2020 Jun 29 doi: 10.1016/j.jpedsurg.2020.06.034. PMID: 32711940
Karmazyn B, Shold AJ, Delaney LR, Brown BP, Marine MB, Jennings SG, Gray BW
Pediatr Radiol 2019 Jul;49(8):1010-1017. Epub 2019 May 28 doi: 10.1007/s00247-019-04417-1. PMID: 31139880
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705
Ghribi A, Bouden A, Braiki M, Jabloun A, Sghairoun N, Gasmi M, Hamzaoui M
Tunis Med 2015 Feb;93(2):76-8. PMID: 26337303

Diagnosis

Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE
Am J Med Genet A 2021 Aug;185(8):2374-2383. Epub 2021 May 10 doi: 10.1002/ajmg.a.62251. PMID: 33969943Free PMC Article
Karmazyn B, Shold AJ, Delaney LR, Brown BP, Marine MB, Jennings SG, Gray BW
Pediatr Radiol 2019 Jul;49(8):1010-1017. Epub 2019 May 28 doi: 10.1007/s00247-019-04417-1. PMID: 31139880
Ricoy J, Rodríguez-Núñez N, Álvarez-Dobaño JM, Toubes ME, Riveiro V, Valdés L
Pulmonology 2019 Jul-Aug;25(4):223-235. Epub 2018 Dec 1 doi: 10.1016/j.pulmoe.2018.10.008. PMID: 30509855
Nason LK, Walker CM, McNeeley MF, Burivong W, Fligner CL, Godwin JD
Radiographics 2012 Mar-Apr;32(2):E51-70. doi: 10.1148/rg.322115127. PMID: 22411950
Groth SS, Andrade RS
Thorac Surg Clin 2009 Nov;19(4):511-9. doi: 10.1016/j.thorsurg.2009.08.003. PMID: 20112634

Therapy

Gupta A, Sidler M, van Poll D, Patel N, Eaton S, Muthialu N, De Coppi P
J Pediatr Surg 2020 Feb;55(2):245-248. Epub 2019 Nov 2 doi: 10.1016/j.jpedsurg.2019.10.040. PMID: 31761454
Taberham RJ, Raza A, Alzetani A, Woo EB, Chamberlain MH, Koulaxouzidis G, Amer KM
Innovations (Phila) 2017 Nov/Dec;12(6):398-405. doi: 10.1097/IMI.0000000000000441. PMID: 29219945
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705
Bjerke HS, Adkins ES, Foglia RP
Surgery 1991 Apr;109(4):550-4. PMID: 2008660
Wexler HA, Poole CA
AJR Am J Roentgenol 1976 Oct;127(4):617-22. doi: 10.2214/ajr.127.4.617. PMID: 970533

Prognosis

Sallout B, Alshebli D, Sallout L, Al Baqawi B, Faden MS
J Obstet Gynaecol Can 2021 Aug;43(8):993-997. Epub 2021 Jan 4 doi: 10.1016/j.jogc.2020.12.014. PMID: 33412306
Moreno-Galarraga L, Bardaji C, Herranz Aguirre M, Viguria N
Pediatr Emerg Care 2021 Nov 1;37(11):e767-e768. doi: 10.1097/PEC.0000000000001765. PMID: 30829839
Heiwegen K, van Heijst AF, Daniels-Scharbatke H, van Peperstraten MC, de Blaauw I, Botden SM
Eur J Pediatr 2020 Jun;179(6):855-863. Epub 2020 Jan 22 doi: 10.1007/s00431-020-03576-w. PMID: 31965300Free PMC Article
Karmazyn B, Shold AJ, Delaney LR, Brown BP, Marine MB, Jennings SG, Gray BW
Pediatr Radiol 2019 Jul;49(8):1010-1017. Epub 2019 May 28 doi: 10.1007/s00247-019-04417-1. PMID: 31139880
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705

Clinical prediction guides

Aihole JS
Afr J Paediatr Surg 2021 Jul-Sep;18(3):133-138. doi: 10.4103/ajps.AJPS_29_20. PMID: 34341195Free PMC Article
Singh G, Rai RK, Pant N, Wakhlu A
J Laparoendosc Adv Surg Tech A 2020 Jun;30(6):692-694. Epub 2020 Mar 5 doi: 10.1089/lap.2019.0805. PMID: 32155102
Ricoy J, Rodríguez-Núñez N, Álvarez-Dobaño JM, Toubes ME, Riveiro V, Valdés L
Pulmonology 2019 Jul-Aug;25(4):223-235. Epub 2018 Dec 1 doi: 10.1016/j.pulmoe.2018.10.008. PMID: 30509855
Podgaetz E, Diaz I, Andrade RS
Thorac Cardiovasc Surg 2016 Dec;64(8):631-640. Epub 2015 Dec 31 doi: 10.1055/s-0035-1570372. PMID: 26720705
Jeanty C, Nien JK, Espinoza J, Kusanovic JP, Gonçalves LF, Qureshi F, Jacques S, Lee W, Romero R
Ultrasound Obstet Gynecol 2007 Apr;29(4):378-87. doi: 10.1002/uog.3958. PMID: 17366518Free PMC Article

Recent systematic reviews

Veiga-Fernández A, Joigneau Prieto L, Álvarez T, Ruiz Y, Pérez R, Gámez F, Ortega Abad V, Yllana F, De León-Luis J
J Matern Fetal Neonatal Med 2020 Jul;33(14):2493-2504. Epub 2019 Jan 17 doi: 10.1080/14767058.2018.1552935. PMID: 30652519

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...