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Metadata
ID DOID:0060647
Name fetal encasement 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

ORDO:465824

Synonyms

cocoon syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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