Primary pulmonary hypoplasia
Primary pulmonary hypoplasia is a rare isolated genetic developmental defect during embryogenesis characterized by congenital 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024
Newly diagnosed with
Primary pulmonary hypoplasia?
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Advocacy Organizations
NGO Association of patients with Pulmonary Hypertension
Mission - to protect the rights of people with rare diseases - pulmonary hypertension, to defend their right to treatment, timely diagnosis and social protection.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.