Living with Filippi syndrome
A rare genetic syndrome present from birth that affects the head, face and limbs, with a small head, webbed fingers or toes, and intellectual disability.
Understanding Filippi syndrome
Signs include a small head (microcephaly), webbed fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features. Other features can include vision problems, extra fingers or toes, and seizures. Because it is very rare, it is not known how the condition changes over time.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Webbed or fused fingers or toes
- Intellectual disability
- Delayed development and growth
- Speech and language problems
- Distinctive 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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CKAP2L 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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 FACES: The National Craniofacial Association
- 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
A genetic change in the CKAP2L gene causes it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: flpis; type 1 syndactyly-microcephaly-intellectual disability syndrome; type 1 syndactyly, microcephaly, intellectual disability syndrome
Patient organizations
- FACES: The National Craniofacial AssociationFilippi syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Filippi syndrome.
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