familial primary pulmonary hypoplasia
Findings
No curated finding names familial primary pulmonary hypoplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congential malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.
Definition from the Mondo Disease Ontology (MONDO:0009936), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Pulmonary hypoplasiaHPOHP:0002089
- Obligate (100% of cases)
- Abnormal breath soundHPOHP:0030829
- Frequent (30% to 79% of cases)
- ApneaHPOHP:0002104
- Frequent (30% to 79% of cases)
- CyanosisHPOHP:0000961
- Frequent (30% to 79% of cases)
- HypoxemiaHPOHP:0012418
- Frequent (30% to 79% of cases)
- Neonatal respiratory distressHPOHP:0002643
- Frequent (30% to 79% of cases)
- Restrictive ventilatory defectHPO
Show the remaining 13
- EpicanthusHPOHP:0000286
- Occasional (5% to 29% of cases)
- Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
- Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
- MicrocephalyHPOHP:0000252
- Occasional (5% to 29% of cases)
- MicrognathiaHPOHP:0000347
- Occasional (5% to 29% of cases)