Living with Lethal faciocardiomelic dysplasia
An extremely rare inherited condition with differences in the face, heart, arms, and legs, reported in one family.
Understanding Lethal faciocardiomelic dysplasia
It was described only once, in 1975, in three affected males in a family of 13 children whose parents were second cousins. Babies had low birth weight, a small mouth, jaw, and tongue, underdeveloped forearm and lower leg bones, and a severe left heart difference.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small jaw and chin (microretrognathia)
- Small mouth and tongue
- Underdeveloped forearm bones
- Short thumb and fifth finger
- Short shinbone and calf bone
- Underdeveloped left side of the heart
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists it as autosomal recessive, which means a child inherits a changed copy of the gene from each parent. GARD does not name a gene.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal faciocardiomelic dysplasia.
Explore research for Lethal faciocardiomelic dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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