Overview
MMEP syndrome is an extremely rare genetic condition whose name stands for Microcephaly, Mesobrachyphalangy, and Tracheoesophageal fistula, though it is also sometimes referred to by its Orphanet designation (ORPHA:3434). This syndrome affects multiple body systems from birth. The hallmark features include an unusually small head size (microcephaly), shortened middle bones of the fingers (mesobrachyphalangy), and an abnormal connection between the windpipe and the food pipe (tracheoesophageal fistula). Additional features may include intellectual disability, growth delays, and other skeletal or limb abnormalities. Because MMEP syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. There is currently no cure for MMEP syndrome. Treatment is supportive and focuses on managing individual symptoms. For example, a tracheoesophageal fistula typically requires surgical repair shortly after birth to allow safe feeding and breathing. Developmental support, physical therapy, and regular monitoring by a team of specialists are important parts of ongoing care. Early diagnosis and coordinated multidisciplinary management can help improve quality of life for affected individuals.
Also known as:
Key symptoms:
Unusually small head size (microcephaly)Shortened middle finger bonesAbnormal connection between the windpipe and food pipe (tracheoesophageal fistula)Intellectual disabilityGrowth delaysFeeding difficulties in infancyBreathing problemsLimb or skeletal abnormalitiesDevelopmental delays
Clinical phenotype terms (11)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for MMEP syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for MMEP syndrome at this time.
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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 MMEP syndrome.
Community
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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 is the severity of my child's tracheoesophageal fistula, and when should surgery be performed?,What developmental therapies should we start, and how often?,Should we pursue genetic testing such as whole exome sequencing to look for a specific cause?,What are the long-term expectations for my child's growth and development?,Are there any other specialists we should see regularly?,What signs or symptoms should prompt us to seek emergency care?,Are there any research studies or registries we can participate in?
Common questions about MMEP syndrome
What is MMEP syndrome?
MMEP syndrome is an extremely rare genetic condition whose name stands for Microcephaly, Mesobrachyphalangy, and Tracheoesophageal fistula, though it is also sometimes referred to by its Orphanet designation (ORPHA:3434). This syndrome affects multiple body systems from birth. The hallmark features include an unusually small head size (microcephaly), shortened middle bones of the fingers (mesobrachyphalangy), and an abnormal connection between the windpipe and the food pipe (tracheoesophageal fistula). Additional features may include intellectual disability, growth delays, and other skeletal o
At what age does MMEP syndrome typically begin?
Typical onset of MMEP syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat MMEP syndrome?
1 specialists and care centers treating MMEP syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.