Details of Disease

General Information of Disease (ID: DISTY8P7)

• Disease Name: Cocoon syndrome
• Synonyms: foetal encasement syndrome; fetal encasement syndrome; cocoon syndrome
• 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.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DIS3LICD: Congenital limb malformation
  DISTY8P7: Cocoon syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0013334
  UMLS CUI: C3150891
  OMIM ID: 613630
  MedGen ID: 462241
  Orphanet ID: 465824
  SNOMED CT ID: 1220575002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
RIPK4	TTB4S01	Strong	Genetic Variation	[1]
CHUK	TTWLVKG	Definitive	Autosomal recessive	[2]
CHUK	TT1F8OQ	Definitive	Genetic Variation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CHUK	OTLF4ZB1	Definitive	Autosomal recessive	[2]

References

• [1] Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Am J Med Genet A. 2015 Mar;167A(3):545-52. doi: 10.1002/ajmg.a.36896.
• [2] Mutant CHUK and severe fetal encasement malformation. N Engl J Med. 2010 Oct 21;363(17):1631-7. doi: 10.1056/NEJMoa0911698.