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Bilateral lung agenesis

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Absent lungs; Agenesis of bilateral lungs; Bilateral agenesis of lung; Bilateral pulmonary agenesis
SNOMED CT: Agenesis of bilateral lungs (838370001); Bilateral agenesis of lung (838370001)
HPO: HP:0005944


Bilateral lack of development of the lungs. [from HPO]

Term Hierarchy

Conditions with this feature

Matthew-Wood syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Syndromic microphthalmia-9 (MCOPS9), 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).
SERKAL syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Syndrome that has characteristics of female to male sex reversal and developmental anomalies of the kidneys, adrenal glands and lungs. The syndrome is lethal and has been described in three fetuses. It is caused by homozygous missense mutations in the WNT4 gene. It is transmitted as an autosomal recessive trait.
Lung agenesis-heart defect-thumb anomalies syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).
Tetraamelia syndrome 2
MedGen UID:
Concept ID:
Disease or Syndrome
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018). For a discussion of genetic heterogeneity of TETAMS, see 273395.

Professional guidelines


Jelin AC, Sagaser KG, Forster KR, Ibekwe T, Norton ME, Jelin EB
Prenat Diagn 2020 Apr;40(5):528-537. Epub 2020 Feb 19 doi: 10.1002/pd.5658. PMID: 32003482Free PMC Article

Recent clinical studies


Atik T, Torun HO, Cogulu O, Ozkinay F
Am J Med Genet A 2015 Feb;167A(2):400-2. Epub 2014 Dec 8 doi: 10.1002/ajmg.a.36832. PMID: 25487726
Sousa SB, Pina R, Ramos L, Pereira N, Krahn M, Borozdin W, Kohlhase J, Amorim M, Gonnet K, Lévy N, Carreira IM, Couceiro AB, Saraiva JM
Am J Med Genet A 2008 Nov 1;146A(21):2799-803. doi: 10.1002/ajmg.a.32489. PMID: 18837045

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