Overview
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome is a rare genetic condition caused by changes (variants) in the TMEM94 gene. This syndrome affects multiple parts of the body, most notably the heart, brain development, and physical appearance. Children born with this condition often have structural heart defects that are present from birth, meaning the heart did not form correctly during pregnancy. These heart problems can range from mild to serious and may require medical or surgical treatment early in life. Beyond the heart, children with this syndrome typically show delays in reaching developmental milestones such as sitting, walking, and talking. Intellectual disability of varying degrees is common. Many children also have distinctive facial features that doctors can recognize, though these features alone are not enough to make a diagnosis. Other features may include low muscle tone (hypotonia), feeding difficulties in infancy, and behavioral challenges. Because this condition is very rare and was only recently described in medical literature, treatment focuses on managing individual symptoms rather than targeting the underlying cause. A team of specialists works together to support each child's unique needs. Early intervention therapies, heart monitoring, and educational support are the main pillars of care.
Key symptoms:
Heart defect present from birth (congenital heart defect)Delayed development (sitting, walking, talking later than expected)Intellectual disability (mild to moderate)Distinctive facial features (such as widely spaced eyes, flat nasal bridge, or low-set ears)Low muscle tone (floppy muscles, especially in infancy)Feeding difficulties in early infancySpeech and language delaysBehavioral challengesShort stature in some childrenPossible brain structural differences seen on MRI
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome.
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 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay 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 type of heart defect does my child have, and what treatment or monitoring does it require?,What developmental therapies should we start right away, and how do we access them?,Should other family members be tested for TMEM94 gene variants?,What is the chance that a future child of ours could have this condition?,Are there any clinical trials or research studies we could participate in?,What signs should prompt us to go to the emergency room?,Which specialists should be part of my child's long-term care team?
Common questions about TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
What is TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome?
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome is a rare genetic condition caused by changes (variants) in the TMEM94 gene. This syndrome affects multiple parts of the body, most notably the heart, brain development, and physical appearance. Children born with this condition often have structural heart defects that are present from birth, meaning the heart did not form correctly during pregnancy. These heart problems can range from mild to serious and may require medical or surgical treatment early in life. Beyond the heart, children with this syndro
How is TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome inherited?
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome typically begin?
Typical onset of TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.