Overview
Lambert syndrome, also known as branchial arch syndrome or Lambert type branchial arch syndrome (Orphanet code 1296), is an extremely rare genetic condition that affects the development of structures derived from the branchial arches during embryonic growth. The branchial arches are structures in the developing embryo that give rise to parts of the face, neck, ears, and throat. In Lambert syndrome, abnormal development of these structures leads to a combination of birth defects that can include facial asymmetry, ear abnormalities (such as small or malformed ears), hearing problems, and other craniofacial differences. Some individuals may also have limb abnormalities or other associated features. Because this condition is so rare, with very few cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. Treatment is generally supportive and symptom-based, meaning doctors address each specific problem as it arises. This may include surgery to correct facial or ear abnormalities, hearing aids or other interventions for hearing loss, and speech therapy if needed. A team of specialists working together typically provides the best care for affected individuals. Early diagnosis and intervention can help improve outcomes and quality of life.
Key symptoms:
Facial asymmetryMalformed or small earsHearing lossAbnormalities of the jaw or lower faceCleft palate or other palate abnormalitiesNeck abnormalities such as branchial cysts or fistulasSpeech difficultiesLimb differencesEye abnormalitiesDental abnormalities
Clinical phenotype terms (16)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Lambert syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Lambert syndrome at this time.
New trials open frequently. Follow this disease to get notified.
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 Lambert syndrome.
Community
No community posts yet. Be the first to share your experience with Lambert syndrome.
Start the conversation →Latest news about Lambert syndrome
No recent news articles for Lambert syndrome.
Follow this condition to be notified when news becomes available.
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 features of Lambert syndrome does my child have, and how severe are they?,Will my child need surgery, and if so, when is the best time?,How should we monitor and manage hearing loss?,What therapies (speech, occupational) would benefit my child?,Is genetic testing available to confirm the diagnosis and help with family planning?,What is the expected long-term outlook for my child?,Are there any clinical studies or registries we should consider joining?
Common questions about Lambert syndrome
What is Lambert syndrome?
Lambert syndrome, also known as branchial arch syndrome or Lambert type branchial arch syndrome (Orphanet code 1296), is an extremely rare genetic condition that affects the development of structures derived from the branchial arches during embryonic growth. The branchial arches are structures in the developing embryo that give rise to parts of the face, neck, ears, and throat. In Lambert syndrome, abnormal development of these structures leads to a combination of birth defects that can include facial asymmetry, ear abnormalities (such as small or malformed ears), hearing problems, and other c
How is Lambert syndrome inherited?
Lambert syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lambert syndrome typically begin?
Typical onset of Lambert syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Lambert syndrome?
5 specialists and care centers treating Lambert syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.