Overview
Lethal faciocardiomelic dysplasia, also known as lethal facio-cardio-melic syndrome, is an extremely rare genetic condition that affects multiple parts of the body, including the face, heart, and limbs. The name itself describes the key areas involved: 'facio' refers to the face, 'cardio' to the heart, and 'melic' to the limbs. This condition is present at birth and is unfortunately fatal, typically in the newborn period or shortly after. Babies born with this condition typically have distinctive facial features, serious heart defects (congenital heart malformations), and significant abnormalities of the arms and legs, including underdeveloped or missing bones. Additional features may include abnormalities of the nose, mouth, and other structures. The heart defects are often severe and contribute significantly to the poor outcome. Because this condition is lethal, treatment is primarily supportive and focused on comfort care. There are no curative treatments available. Only a very small number of cases have been described in the medical literature, making this one of the rarest known genetic conditions. Genetic counseling is important for affected families to understand recurrence risks in future pregnancies.
Key symptoms:
Severe heart defects present at birthAbnormal facial featuresUnderdeveloped or missing limb bonesShort limbsFlat or underdeveloped noseSmall jawAbnormalities of the hands and fingersAbnormalities of the feet and toesCleft palate or lip abnormalitiesBreathing difficulties at birthLow birth weightFailure to thrive
Clinical phenotype terms (15)— hover any for plain English
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 Lethal faciocardiomelic dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Lethal faciocardiomelic dysplasia.
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 Lethal faciocardiomelic dysplasia.
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Caregiver Resources
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Family & Caregiver Grants
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Can you explain exactly what abnormalities have been found in our baby?,Is genetic testing available to identify the specific cause of this condition?,What is the chance this could happen again in a future pregnancy?,What palliative care and comfort measures are available for our baby?,Can we be referred to a genetic counselor to discuss family planning?,Are there any support groups or bereavement services you can recommend?,Is prenatal testing possible in future pregnancies to check for this condition?
Common questions about Lethal faciocardiomelic dysplasia
What is Lethal faciocardiomelic dysplasia?
Lethal faciocardiomelic dysplasia, also known as lethal facio-cardio-melic syndrome, is an extremely rare genetic condition that affects multiple parts of the body, including the face, heart, and limbs. The name itself describes the key areas involved: 'facio' refers to the face, 'cardio' to the heart, and 'melic' to the limbs. This condition is present at birth and is unfortunately fatal, typically in the newborn period or shortly after. Babies born with this condition typically have distinctive facial features, serious heart defects (congenital heart malformations), and significant abnormal
How is Lethal faciocardiomelic dysplasia inherited?
Lethal faciocardiomelic dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal faciocardiomelic dysplasia typically begin?
Typical onset of Lethal faciocardiomelic dysplasia is neonatal. Age of onset can vary across affected individuals.