Rare diseases · Sign or symptom
Pulmonary hypoplasia
Poorly developed lungs
HP:0002089
Rare diseases that can present with this73
Very common80–99%
14- Blomstrand lethal chondrodysplasia
- Diaphragmatic defect-limb deficiency-skull defect syndrome
- Fetal akinesia deformation sequence
- Fryns syndrome
- Growth delay-hydrocephaly-lung hypoplasia syndrome
- Lethal congenital contracture syndrome type 1
- Lissencephaly type 3-metacarpal bone dysplasia syndrome
- Otopalatodigital syndrome type 2
- PAGOD syndrome
- Penile agenesis
- Renal agenesis, bilateral
- Renal tubular dysgenesis
- Restrictive dermopathy
- Thanatophoric dysplasia
Common30–79%
19- Achondrogenesis type 2
- Acro-renal-mandibular syndrome
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Atelosteogenesis type I
- Atelosteogenesis type II
- Autosomal recessive polycystic kidney disease
- Congenital diaphragmatic hernia
- Distal deletion 15q syndrome
- Dysplastic cortical hyperostosis, Al-Gazali type
- Matthew-Wood syndrome
- Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- NPHP3-related Meckel-like syndrome
- Omphalocele
- Pentalogy of Cantrell
- Pericardial and diaphragmatic defect
- Platyspondylic dysplasia, Torrance type
- Scimitar syndrome
- Smith-Lemli-Opitz syndrome
- Ulbright-Hodes syndrome
Sometimes5–29%
29- 1q41q42microdeletion syndrome
- Absence of the pulmonary artery
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- ALG9-CDG
- Autosomal recessive multiple pterygium syndrome
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
- Caudal regression syndrome
- CHILD syndrome
and 21 more in this range
The 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: Hypoplastic lung · Hypoplastic lungs · Lung hypoplasia · Small lung · Underdeveloped lung
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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.