Living with Lethal polymalformative syndrome, Boissel type
A rare inherited condition with slow growth, severe developmental delay, a small head, heart defects, and facial differences.
Understanding Lethal polymalformative syndrome, Boissel type
It involves slow weight gain, severe developmental delay, a head that grows very slowly after birth, and often heart defects. The face may look coarse. Nerve problems can include seizures, hearing loss, and stiff or floppy muscles. It begins in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow weight gain (failure to thrive)
- Small head that grows slowly
- Seizures
- Cleft palate
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Coarse facial features
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 genetic specialists.
- 3Consider genetic testing
Changes in FTO are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- 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
It is caused by changes in the FTO gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: growth retardation, developmental delay, and facial dysmorphism; growth retardation, developmental delay, facial dysmorphism
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 polymalformative syndrome, Boissel type.
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