Larynx anomaly

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ORPHA:156249Q31
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20Specialists8Treatment centers

Where are you in your journey?

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

Larynx anomaly (also referred to as congenital anomaly of the larynx or congenital laryngeal malformation) encompasses a group of rare structural abnormalities of the larynx that are present at birth. These malformations affect the upper airway and can involve various laryngeal structures including the epiglottis, arytenoid cartilages, vocal cords, subglottic region, or laryngeal cartilage framework. The condition falls under the broader ICD-10 category Q31, which includes congenital malformations of the larynx such as laryngeal web, laryngomalacia, congenital subglottic stenosis, congenital laryngocele, and other unspecified congenital anomalies of the larynx. Key symptoms depend on the specific type and severity of the anomaly but commonly include stridor (noisy breathing), feeding difficulties, weak or abnormal cry, respiratory distress, and in severe cases, life-threatening airway obstruction. Laryngomalacia is the most common congenital laryngeal anomaly and typically presents with inspiratory stridor that worsens with feeding, crying, or supine positioning. Subglottic stenosis and laryngeal webs may cause more significant airway compromise requiring earlier intervention. Management varies based on the specific anomaly and its severity. Mild cases, particularly laryngomalacia, may resolve spontaneously as the child grows and the laryngeal cartilage matures. More severe cases may require surgical intervention, including supraglottoplasty, endoscopic laser surgery, laryngotracheal reconstruction, or tracheostomy for airway stabilization. Multidisciplinary care involving otolaryngologists, pulmonologists, speech-language pathologists, and feeding specialists is often necessary to optimize outcomes. Some congenital laryngeal anomalies may occur as isolated findings, while others can be associated with broader genetic syndromes or chromosomal abnormalities.

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
May 2025Face Mask vs Laryngeal Mask in Neonatal Resuscitation

Fondazione Policlinico Universitario Agostino Gemelli IRCCS — NA

TrialNOT YET RECRUITING
May 2023Clinical Study of Curcumin in Preventing Postoperative Adhesion of Bilateral Vocal Cords

Eye & ENT Hospital of Fudan University — PHASE1, PHASE2

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Larynx anomaly.

View clinical trials →

No actively recruiting trials found for Larynx anomaly at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Larynx anomaly community →

Specialists

20 foundView all specialists →
DM
David G Lott, MD
Specialist
PI on 2 active trials
MM
Mohamed S EL-Sayed, MBBCh,MSc,MD
Specialist
PI on 1 active trial
MM
Mohamed S EL-Sayed, MBBCh, MSc, MD
Specialist
PI on 2 active trials
SM
Shivaani Kummar, MD
PORTLAND, OR
Specialist
PI on 5 active trials
KP
Kurt Fisher, MD, PhD
OMAHA, NE
Specialist
PI on 1 active trial
AD
Andrei Y Hancharou, Dr
Specialist
PI on 1 active trial
ZT
zeliha ZT tuncel
Specialist
PI on 1 active trial3 Larynx anomaly publications
CP
Carlos A Delgado, MD, PhD
Specialist
PI on 1 active trial
JM
Joaquim M Pinheiro, MD, MPH
ALBANY, NY
Specialist
PI on 2 active trials
VM
Vivek Subbiah, MD
STANFORD, CA
Specialist
PI on 2 active trials
RM
Raymond Bergan, MD
CHICAGO, IL
Specialist
PI on 1 active trial
NM
Nicolas J Pejovic, MD
Specialist
PI on 1 active trial
QM
Querube Santana, MD
Specialist
PI on 1 active trial
BM
Boutros Mariam
Specialist
PI on 1 active trial
EM
Eleonore Mulac-Vauclair
Specialist
PI on 1 active trial7 Larynx anomaly publications
KH
Kamga Herve
Specialist
PI on 1 active trial
PM
Pierre-Emmanuel Marsan
Specialist
PI on 1 active trial
SP
Sirinuch Chomtho, MD, PhD
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 Larynx anomaly.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Larynx anomalyForum →

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Latest news about Larynx anomaly

Disease timeline:

New recruiting trial: Clinical Study of Curcumin in Preventing Postoperative Adhesion of Bilateral Vocal Cords

A new clinical trial is recruiting patients for Larynx anomaly

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.

Common questions about Larynx anomaly

What is Larynx anomaly?

Larynx anomaly (also referred to as congenital anomaly of the larynx or congenital laryngeal malformation) encompasses a group of rare structural abnormalities of the larynx that are present at birth. These malformations affect the upper airway and can involve various laryngeal structures including the epiglottis, arytenoid cartilages, vocal cords, subglottic region, or laryngeal cartilage framework. The condition falls under the broader ICD-10 category Q31, which includes congenital malformations of the larynx such as laryngeal web, laryngomalacia, congenital subglottic stenosis, congenital l

At what age does Larynx anomaly typically begin?

Typical onset of Larynx anomaly is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Larynx anomaly?

20 specialists and care centers treating Larynx anomaly are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.