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Metadata
ID DOID:0060647
Name cocoon syndrome
Definition A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin.
https://www.ncbi.nlm.nih.gov/pubmed/20961246
Xrefs

OMIM:613630

Synonyms

fetal encasement syndrome [EXACT]

Parent Relationships

is_a syndrome

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