Rare diseases · Sign or symptom
Aplasia/Hypoplasia of the lungs
Absent/small lungs
HP:0006703
Rare diseases that can present with this30
Very common80–99%
15- Achondrogenesis
- Achondrogenesis type 1A
- Achondrogenesis type 1B
- Axial mesodermal dysplasia spectrum
- Cryptorchidism-arachnodactyly-intellectual disability syndrome
- Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
- Holzgreve syndrome
- Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
- Meacham syndrome
- Prune belly syndrome
- Tetraamelia-multiple malformations syndrome
- Thanatophoric dysplasia type 2
- Tracheal agenesis
- VACTERL/VATER association
- Verloove Vanhorick-Brubakk syndrome
Common30–79%
7Sometimes5–29%
7The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Absent/underdeveloped lungs
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.