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GTR Home > Conditions/Phenotypes > Cocoon syndrome

Cocoon syndrome

Synonyms
FETAL ENCASEMENT SYNDROME
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare lethal developmental defect during embryogenesis with characteristics of severe fetal malformations. These malformations include 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, horseshoe kidneys, diaphragm and lung lobulation defects is reported. [from SNOMEDCT_US]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BPS2, IKBKA, IKK-1, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16, CHUK
    Summary: component of inhibitor of nuclear factor kappa B kinase complex

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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