Living with Cocoon syndrome
An extremely rare condition present before birth, with severe differences in the face, limbs, and organs.
Understanding Cocoon syndrome
Features include differences in the head and face, a belly wall defect (omphalocele), and limbs that are small and cannot move, covered by a thin, see-through skin. Muscles and bones are underdeveloped. Heart, kidney, diaphragm, and lung differences have also been reported. GARD lists onset during pregnancy.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Small eyes (microphthalmia)
- Differences in the shape of the nose
- Cleft of the mouth
- Differences in the lungs
- Hernia in the diaphragm
- Missing skull bone formation
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.
- 3Consider genetic testing
Changes in CHUK 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); 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 says changes in the CHUK gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: fetal encasement syndrome; foetal encasement syndrome
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 Cocoon syndrome.
Explore research for Cocoon syndrome
Explore actively recruiting Cocoon syndrome studies with HealthSpark.
Find actively recruiting studies for Cocoon syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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