Any child with a diagnosed or suspected rare lung disease is welcome to be evaluated by the Lung Diseases Center at Children's Hospital of Philadelphia (CHOP).

We have expertise in all types of rare lung diseases affecting children, including:

• Abnormalities in surfactant metabolism and clearance
• Telomere length disorders
• Pulmonary complications resulting from sequelae of systemic diseases including oncologic, rheumatologic, GI and immunologic disorders
• Neuroendocrine cell hyperplasia of infancy (NEHI)
• Hermansky Pudlak syndrome
• Bronchiolitis obliterans
• Ataxia telangiectasia
• Children born preterm who continue to have significant lung disease beyond what would normally be expected for their age

We offer second opinion appointments within two weeks of contact, as long as necessary medical records are available to our team.

We partner with referring physicians from across the country to develop the most effective treatment plan for children under their care.

For any child with a possible genetic cause for their lung disease, we provide comprehensive genetic risk assessment through our genetic counseling services. We can then identify at-risk family members for risk assessment and genetic testing.

Babies born prematurely and experiencing chronic lung disease (bronchopulmonary dysplasia) may benefit from the program if their lung improvement has stalled, which could be a sign of a rare disease. Preemies whose lungs continue to heal are seen in the division’s Post-preemie Lung Disease Clinic.