Living with Primary pulmonary hypoplasia
A rare genetic condition in which the lungs are underdeveloped at birth, causing severe breathing problems in newborns.
Understanding Primary pulmonary hypoplasia
Newborns have quiet breath sounds, small lung volume and serious breathing trouble. GARD says the breathing problems do not respond to aggressive treatment, including surfactant and a breathing machine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Underdeveloped lungs
- Breathing trouble in newborns
- Fast breathing
- Bluish skin color (cyanosis)
- Low blood oxygen
- Pauses in breathing (apnea)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: familial primary pulmonary hypoplasia; idiopathic pulmonary hypoplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Primary pulmonary hypoplasia.
Explore research for Primary pulmonary hypoplasia
Explore actively recruiting Primary pulmonary hypoplasia studies with HealthSpark.
Find actively recruiting studies for Primary pulmonary hypoplasia with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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