Congenital laryngomalacia

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ORPHA:2373OMIM:150280Q31.5
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18Specialists8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Congenital laryngomalacia, also known as congenital laryngeal stridor, is the most common congenital anomaly of the larynx (voice box) and the most frequent cause of stridor (noisy breathing) in newborns and infants. The condition is characterized by an abnormally soft and floppy supraglottic laryngeal tissue — particularly the epiglottis, aryepiglottic folds, and arytenoid cartilages — which collapse inward during inspiration, partially obstructing the airway. This results in the hallmark symptom of inspiratory stridor, which is typically high-pitched and worsens with feeding, crying, agitation, or when the infant is placed in a supine position. The condition primarily affects the upper airway and respiratory system, though secondary effects on feeding and growth can occur. Key clinical features include intermittent inspiratory stridor that usually appears within the first two weeks of life, feeding difficulties, gastroesophageal reflux, and in more severe cases, failure to thrive, obstructive apnea, cyanotic episodes, and pectus excavatum due to chronic increased respiratory effort. Diagnosis is confirmed by flexible laryngoscopy, which reveals the characteristic collapse of supraglottic structures during inspiration. The majority of cases (approximately 90%) are mild to moderate and resolve spontaneously by 12 to 24 months of age as the laryngeal cartilage matures and stiffens. Conservative management includes upright positioning during and after feeds, anti-reflux measures, and close monitoring of growth and respiratory status. For the approximately 10% of infants with severe laryngomalacia — characterized by significant feeding difficulties, failure to thrive, oxygen desaturation, or obstructive apnea — surgical intervention with supraglottoplasty is the standard treatment. This procedure involves trimming redundant supraglottic tissue and has a high success rate. The exact etiology remains incompletely understood, though neuromuscular immaturity, anatomical factors, and gastroesophageal reflux disease are thought to play contributing roles.

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Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Congenital laryngomalacia.

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No actively recruiting trials found for Congenital laryngomalacia at this time.

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Specialists

18 foundView all specialists →
MM
Mohamed S EL-Sayed, MBBCh, MSc, MD
Specialist
PI on 2 active trials
CB
C Benoit
Specialist
1 Congenital laryngomalacia publication
EB
E Bois
Specialist
1 Congenital laryngomalacia publication
EC
E Chebib
Specialist
1 Congenital laryngomalacia publication
SL
S Levivien
Specialist
1 Congenital laryngomalacia publication
LK
L Kahn
Specialist
1 Congenital laryngomalacia publication
SB
S Bellanger
Specialist
1 Congenital laryngomalacia publication
TA
T Van Den Abbeele
Specialist
1 Congenital laryngomalacia publication
NT
N Teissier
Specialist
1 Congenital laryngomalacia publication
BS
B Sabran
Specialist
1 Congenital laryngomalacia publication
ZG
Z Ghelab
Specialist
1 Congenital laryngomalacia publication
AF
Andrey Filimonov
NEWARK, NJ
Specialist
1 Congenital laryngomalacia publication
AY
Arsany Yassa
COLUMBIA, MO
Specialist
1 Congenital laryngomalacia publication
PK
Praneet C Kaki
Specialist
1 Congenital laryngomalacia publication
VS
Vraj P Shah
Specialist
1 Congenital laryngomalacia publication
AP
Aman M Patel
Specialist
1 Congenital laryngomalacia publication
RP
Reema Padia
CARY, NC
Specialist
PI on 1 active trial
DS
Douglas R Sidell
PALO ALTO, CA
Specialist
PI on 1 active trial

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 Congenital laryngomalacia.

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Community

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Common questions about Congenital laryngomalacia

What is Congenital laryngomalacia?

Congenital laryngomalacia, also known as congenital laryngeal stridor, is the most common congenital anomaly of the larynx (voice box) and the most frequent cause of stridor (noisy breathing) in newborns and infants. The condition is characterized by an abnormally soft and floppy supraglottic laryngeal tissue — particularly the epiglottis, aryepiglottic folds, and arytenoid cartilages — which collapse inward during inspiration, partially obstructing the airway. This results in the hallmark symptom of inspiratory stridor, which is typically high-pitched and worsens with feeding, crying, agitati

How is Congenital laryngomalacia inherited?

Congenital laryngomalacia follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital laryngomalacia typically begin?

Typical onset of Congenital laryngomalacia is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Congenital laryngomalacia?

18 specialists and care centers treating Congenital laryngomalacia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.