cocoon syndrome
Findings
No curated finding names cocoon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.
Definition from the Mondo Disease Ontology (MONDO:0013334), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal lung lobationHPOHP:0002101
- 2 of 2 reported patients
- Abnormal nasal morphologyHPOHP:0005105
- 2 of 2 reported patients
- Absent ossification of calvariaHPOHP:0005623
- 2 of 2 reported patients
- Absent stratum granulosum of epidermisHPOHP:0025815
- 2 of 2 reported patients
- Decreased fetal movementHPOHP:0001558
- 2 of 2 reported patients
- Hypoplasia of the musculatureHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CHUKHGNC:1974
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: cocoon syndrome
- Also called
- fetal encasement syndromefoetal encasement syndrome