Overview
Thoracic malformation is a broad term used to describe a group of rare birth defects that affect the shape and structure of the chest (thorax). This includes abnormalities of the ribs, sternum (breastbone), spine in the chest area, and the overall chest wall. These malformations can range from mild cosmetic differences to severe structural problems that affect how the lungs and heart work. Common examples include pectus excavatum (sunken chest), pectus carinatum (pigeon chest), and more complex rib or sternal abnormalities. Some thoracic malformations occur on their own, while others are part of broader genetic syndromes. Symptoms depend on the type and severity of the malformation. Mild cases may only cause a visible difference in chest shape, while more severe cases can lead to breathing difficulties, reduced exercise tolerance, and heart problems due to compression of organs inside the chest. In newborns, severe thoracic malformations can cause life-threatening breathing problems that require immediate medical attention. Treatment varies widely depending on the specific type and severity. Mild cases may only need monitoring, while moderate to severe cases may require surgery to reshape the chest wall, bracing, or other supportive treatments such as respiratory therapy. In some cases, multiple surgeries over time may be needed as the child grows. Early diagnosis and a team-based approach involving several specialists are important for the best outcomes.
Key symptoms:
Abnormal chest shapeSunken or protruding breastboneBreathing difficultiesShortness of breath during exerciseReduced stamina or exercise intoleranceAsymmetric chest wallMissing or extra ribsChest pain or discomfortFrequent respiratory infectionsPoor weight gain in infantsRapid breathing in newbornsVisible rib abnormalitiesCurved spine in the chest areaHeart palpitations or irregular heartbeat
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsAnkara Etlik City Hospital — NA
University of Lahore — NA
Papa Giovanni XXIII Hospital
Children's Memorial Health Institute, Poland — NA
Pomeranian Medical University Szczecin
Kaohsiung Medical University Chung-Ho Memorial Hospital — NA
China National Center for Cardiovascular Diseases
University Hospital, Strasbourg, France
University of Sao Paulo — NA
Eastern Mediterranean University — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Thoracic malformation.
13 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Thoracic malformation.
Community
No community posts yet. Be the first to share your experience with Thoracic malformation.
Start the conversation →Latest news about Thoracic malformation
Disease timeline:
New recruiting trial: Intraoperative Cryoanalgesia Versus Thoracic Epidural Block in MIRPE (Minimally Invasive Repair of Pectus Excavatum)
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Effectiveness of Cardiopulmonary Exercises for Children With Pectus Excavatum
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Reconstructions of Chest Wall Defects: a Retrospective Study
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Clariance ErYs Registry
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Field-test and Psychometric Validation of the Pectus Excavatum Evaluation Questionnaire in the Dutch Pectus Excavatum Population
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Synergic Effects of Schroth Method With and Without Core Stabilization Exercises in Idiopathic Scoliosis Patients
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Effectiveness of One-Minute Versus Two-Minute Cryoanalgesia in Nuss Surgery
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Effects of AD on VI in Patients With CF
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: Comparative Analysis Of Modified Vs. Classical Nuss Technique In The Surgical Correction Of Pectus Excavatum "
A new clinical trial is recruiting patients for Thoracic malformation
New recruiting trial: ES Catheter vs Cryoablation After Pectus Surgery
A new clinical trial is recruiting patients for Thoracic malformation
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of thoracic malformation does my child have, and how severe is it?,Is this malformation part of a genetic syndrome, and should we pursue genetic testing?,Will my child need surgery, and if so, when is the best time to do it?,How will this affect my child's breathing, heart function, and ability to exercise?,What non-surgical treatment options are available?,How often will my child need follow-up visits and imaging?,Are there any activity restrictions my child should follow?
Common questions about Thoracic malformation
What is Thoracic malformation?
Thoracic malformation is a broad term used to describe a group of rare birth defects that affect the shape and structure of the chest (thorax). This includes abnormalities of the ribs, sternum (breastbone), spine in the chest area, and the overall chest wall. These malformations can range from mild cosmetic differences to severe structural problems that affect how the lungs and heart work. Common examples include pectus excavatum (sunken chest), pectus carinatum (pigeon chest), and more complex rib or sternal abnormalities. Some thoracic malformations occur on their own, while others are part
At what age does Thoracic malformation typically begin?
Typical onset of Thoracic malformation is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Thoracic malformation?
Yes — 13 recruiting clinical trials are currently listed for Thoracic malformation on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Thoracic malformation?
25 specialists and care centers treating Thoracic malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.