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Abnormal lung development

MedGen UID:: 1785499
•Concept ID:: C5539890
•: Congenital Abnormality

Synonym:	Developmental pulmonary anomaly

HPO:	HP:4000059

Definition

A structural defect associated with abnormal development of the lung. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal lung development

Phenotypic abnormality
- Abnormality of the respiratory system
  - Abnormal respiratory system physiology
    - Abnormal respiratory system morphology
      - Abnormality of the lung
        Abnormal lung development
        Abnormal lung lobation
        Bilateral trilobed lung
        Bilobed right lung
        Congenital lobar emphysema
        Horseshoe lung
        Single-lobed right lung
        Abnormal pulmonary alveolar system development
        Alveolar capillary dysplasia
        Polyalveolar lobe
        Abnormal pulmonary fissure morphology
        Abnormal pulmonary fissure architecture
        Abnormal pulmonary fissure count
        Decreased pulmonary fissure count
        Supernumerary pulmonary fissure
        Abnormal pulmonary situs morphology
        Pulmonary situs ambiguus
        Pulmonary situs ambiguus with bilateral morphologic left lungs
        Pulmonary situs ambiguus with bilateral morphologic right lungs
        Pulmonary situs inversus
        Aplasia/Hypoplasia of the lungs
        Acinar dysplasia
        Bilateral lung agenesis
        Congenital alveolar dysplasia
        Hyaline membrane disease
        Transitory tachypnea of newborn
        Pulmonary hypoplasia
        Unilateral lung agenesis
        Congenital pulmonary sequestration
        Communicating congenital bronchopulmonary-foregut malformation
        Extralobar congenital pulmonary sequestration
        Extrapulmonary lobar sequestration
        Intralobar congenital pulmonary sequestration
        Intrapulmonary lobar sequestration
        Unilateral primary pulmonary dysgenesis

Professional guidelines

PubMed

Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up.

Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236

Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

Pelizzo G, Costanzo F, Andreatta E, Calcaterra V
Minerva Pediatr 2016 Aug;68(4):299-311. Epub 2015 Sep 11 PMID: 26365821

Pulmonary effects of prolonged oligohydramnios following mid-trimester rupture of the membranes--antenatal and postnatal management.

Williams O, Hutchings G, Hubinont C, Debauche C, Greenough A
Neonatology 2012;101(2):83-90. Epub 2011 Sep 17 doi: 10.1159/000329445. PMID: 21934333

See all (3)

Recent clinical studies

Etiology

Unravelling the respiratory health path across the lifespan for survivors of preterm birth.

Simpson SJ, Du Berry C, Evans DJ, Gibbons JTD, Vollsæter M, Halvorsen T, Gruber K, Lombardi E, Stanojevic S, Hurst JR, Um-Bergström P, Hallberg J, Doyle LW, Kotecha S; PELICAN
Lancet Respir Med 2024 Feb;12(2):167-180. Epub 2023 Nov 14 doi: 10.1016/S2213-2600(23)00272-2. PMID: 37972623

Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up.

Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236

Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome.

Bush D, Abman SH, Galambos C
J Pediatr 2017 Jan;180:156-162.e1. Epub 2016 Sep 22 doi: 10.1016/j.jpeds.2016.08.063. PMID: 27666181

Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

Pelizzo G, Costanzo F, Andreatta E, Calcaterra V
Minerva Pediatr 2016 Aug;68(4):299-311. Epub 2015 Sep 11 PMID: 26365821

Vascular abnormalities in human newborns with pulmonary hypertension.

Sluiter I, Reiss I, Kraemer U, Krijger Rd, Tibboel D, Rottier RJ
Expert Rev Respir Med 2011 Apr;5(2):245-56. doi: 10.1586/ers.11.8. PMID: 21510734

See all (19)

Diagnosis

Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up.

Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236

Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.

Lal CV, Bhandari V, Ambalavanan N
Semin Perinatol 2018 Nov;42(7):425-431. Epub 2018 Oct 2 doi: 10.1053/j.semperi.2018.09.004. PMID: 30487069 Free PMC Article

Abnormal lung development in congenital diaphragmatic hernia.

Ameis D, Khoshgoo N, Keijzer R
Semin Pediatr Surg 2017 Jun;26(3):123-128. Epub 2017 Apr 25 doi: 10.1053/j.sempedsurg.2017.04.011. PMID: 28641748

Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

Pelizzo G, Costanzo F, Andreatta E, Calcaterra V
Minerva Pediatr 2016 Aug;68(4):299-311. Epub 2015 Sep 11 PMID: 26365821

Congenital diaphragmatic hernia.

Smith NP, Jesudason EC, Losty PD
Paediatr Respir Rev 2002 Dec;3(4):339-48. doi: 10.1016/s1526-0542(02)00262-2. PMID: 12457605

See all (16)

Therapy

Fetal lung hypoxia and energetic cell failure in the nitrofen-induced congenital diaphragmatic hernia rat model.

Romero-Lopez M, Oria M, Ferrer-Marquez F, Varela MF, Lampe K, Watanabe-Chailland M, Martinez L, Peiro JL
Pediatr Surg Int 2023 Apr 13;39(1):180. doi: 10.1007/s00383-023-05452-8. PMID: 37055635

Electronic Cigarettes: Their Constituents and Potential Links to Asthma.

Clapp PW, Jaspers I
Curr Allergy Asthma Rep 2017 Oct 5;17(11):79. doi: 10.1007/s11882-017-0747-5. PMID: 28983782 Free PMC Article

Transabdominal amnioinfusion for improving fetal outcomes after oligohydramnios secondary to preterm prelabour rupture of membranes before 26 weeks.

Van Teeffelen S, Pajkrt E, Willekes C, Van Kuijk SM, Mol BW
Cochrane Database Syst Rev 2013 Aug 3;2013(8):CD009952. doi: 10.1002/14651858.CD009952.pub2. PMID: 23913522 Free PMC Article

Pulmonary effects of prolonged oligohydramnios following mid-trimester rupture of the membranes--antenatal and postnatal management.

Williams O, Hutchings G, Hubinont C, Debauche C, Greenough A
Neonatology 2012;101(2):83-90. Epub 2011 Sep 17 doi: 10.1159/000329445. PMID: 21934333

SOX5 is a candidate gene for chronic obstructive pulmonary disease susceptibility and is necessary for lung development.

Hersh CP, Silverman EK, Gascon J, Bhattacharya S, Klanderman BJ, Litonjua AA, Lefebvre V, Sparrow D, Reilly JJ, Anderson WH, Lomas DA, Mariani TJ
Am J Respir Crit Care Med 2011 Jun 1;183(11):1482-9. Epub 2011 Feb 17 doi: 10.1164/rccm.201010-1751OC. PMID: 21330457 Free PMC Article

See all (5)

Prognosis

Unravelling the respiratory health path across the lifespan for survivors of preterm birth.

Fetal MRI radiomics: non-invasive and reproducible quantification of human lung maturity.

Prayer F, Watzenböck ML, Heidinger BH, Rainer J, Schmidbauer V, Prosch H, Ulm B, Rubesova E, Prayer D, Kasprian G
Eur Radiol 2023 Jun;33(6):4205-4213. Epub 2023 Jan 6 doi: 10.1007/s00330-022-09367-1. PMID: 36604329 Free PMC Article

Congenital diaphragmatic hernia: current management strategies from antenatal diagnosis to long-term follow-up.

Kirby E, Keijzer R
Pediatr Surg Int 2020 Apr;36(4):415-429. Epub 2020 Feb 18 doi: 10.1007/s00383-020-04625-z. PMID: 32072236

Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.

Lal CV, Bhandari V, Ambalavanan N
Semin Perinatol 2018 Nov;42(7):425-431. Epub 2018 Oct 2 doi: 10.1053/j.semperi.2018.09.004. PMID: 30487069 Free PMC Article

Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

Pelizzo G, Costanzo F, Andreatta E, Calcaterra V
Minerva Pediatr 2016 Aug;68(4):299-311. Epub 2015 Sep 11 PMID: 26365821

See all (15)

Clinical prediction guides

Fetal MRI radiomics: non-invasive and reproducible quantification of human lung maturity.

Maternal NO(2) exposure disturbs the long noncoding RNA expression profile in the lungs of offspring in time-series patterns.

Yue H, Yang X, Wu X, Geng X, Ji X, Li G, Sang N
Ecotoxicol Environ Saf 2022 Nov;246:114140. Epub 2022 Oct 6 doi: 10.1016/j.ecoenv.2022.114140. PMID: 36209526

Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.

Lal CV, Bhandari V, Ambalavanan N
Semin Perinatol 2018 Nov;42(7):425-431. Epub 2018 Oct 2 doi: 10.1053/j.semperi.2018.09.004. PMID: 30487069 Free PMC Article

Electronic Cigarettes: Their Constituents and Potential Links to Asthma.

Clapp PW, Jaspers I
Curr Allergy Asthma Rep 2017 Oct 5;17(11):79. doi: 10.1007/s11882-017-0747-5. PMID: 28983782 Free PMC Article

Prominent Intrapulmonary Bronchopulmonary Anastomoses and Abnormal Lung Development in Infants and Children with Down Syndrome.

Bush D, Abman SH, Galambos C
J Pediatr 2017 Jan;180:156-162.e1. Epub 2016 Sep 22 doi: 10.1016/j.jpeds.2016.08.063. PMID: 27666181

See all (17)

Recent systematic reviews

Transabdominal amnioinfusion for improving fetal outcomes after oligohydramnios secondary to preterm prelabour rupture of membranes before 26 weeks.

Van Teeffelen S, Pajkrt E, Willekes C, Van Kuijk SM, Mol BW
Cochrane Database Syst Rev 2013 Aug 3;2013(8):CD009952. doi: 10.1002/14651858.CD009952.pub2. PMID: 23913522 Free PMC Article

See all (1)

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Abnormal lung development

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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