fetal encasement syndrome

Term ID

DOID:0060647

Synonyms

• 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

References

• OMIM:613630
• ORDO:465824

Ontology

Human Disease   ( DOID:0060647 )