OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

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Overview

Laryngo-tracheo-esophageal cleft with pulmonary hypoplasia syndrome is an extremely rare congenital condition that affects the development of the airway and lungs before birth. The term 'OBSOLETE' in its name means this condition has been reclassified or merged with other diagnoses in medical databases, but the clinical features remain recognized. In this condition, there is an abnormal opening (cleft) between the larynx (voice box), trachea (windpipe), and esophagus (the tube that carries food to the stomach). Normally, the airway and the food pipe are completely separate, but in this syndrome they share an abnormal connection. Additionally, the lungs are underdeveloped (pulmonary hypoplasia), meaning they are smaller than normal and may not function well enough to support breathing. Babies born with this condition typically have severe breathing difficulties from birth, feeding problems, and recurrent aspiration (food or liquid entering the lungs). The combination of airway malformation and underdeveloped lungs makes this a very serious, life-threatening condition. Treatment is primarily surgical, aiming to repair the cleft and support breathing, but outcomes depend heavily on the severity of the defects. Supportive care in a neonatal intensive care unit is essential. Because of its rarity, management requires a highly specialized multidisciplinary team.

Also known as:

Key symptoms:

Severe breathing difficulty at birthAbnormal connection between the windpipe and food pipeUnderdeveloped lungsChoking or coughing during feedingFood or liquid going into the lungs (aspiration)Weak or absent cryBluish skin color due to low oxygenRecurrent lung infectionsDifficulty swallowingPoor weight gainStridor (noisy breathing)Need for breathing support at birth

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome.

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No actively recruiting trials found for OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome at this time.

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Search ClinicalTrials.gov ↗Join the OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome community →

No specialists are currently listed for OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome.

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Community

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Latest news about OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is the cleft and how underdeveloped are my baby's lungs?,Is surgical repair possible, and what are the risks and expected outcomes?,What kind of breathing support will my baby need, and for how long?,How will my baby be fed, and will they eventually be able to eat by mouth?,Are there any genetic tests that should be done to look for related conditions?,What is the long-term outlook for my child's breathing and development?,What support services are available for our family?

Common questions about OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

What is OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome?

Laryngo-tracheo-esophageal cleft with pulmonary hypoplasia syndrome is an extremely rare congenital condition that affects the development of the airway and lungs before birth. The term 'OBSOLETE' in its name means this condition has been reclassified or merged with other diagnoses in medical databases, but the clinical features remain recognized. In this condition, there is an abnormal opening (cleft) between the larynx (voice box), trachea (windpipe), and esophagus (the tube that carries food to the stomach). Normally, the airway and the food pipe are completely separate, but in this syndrom

At what age does OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome typically begin?

Typical onset of OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome is neonatal. Age of onset can vary across affected individuals.