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Cocoon syndrome

MedGen UID:
462241
Concept ID:
C3150891
Disease or Syndrome
Synonym: FETAL ENCASEMENT SYNDROME
SNOMED CT: Cocoon syndrome (1220575002); Fetal encasement syndrome (1220575002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): CHUK (10q24.31)
 
Monarch Initiative: MONDO:0013334
OMIM®: 613630
Orphanet: ORPHA465824

Definition

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]

Clinical features

From HPO
Horseshoe kidney
MedGen UID:
65140
Concept ID:
C0221353
Congenital Abnormality
A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline.
Increased urinary 8-oxo-7,8-dihydroguanosine level
MedGen UID:
1780947
Concept ID:
C5542183
Finding
An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine.
Lower limb undergrowth
MedGen UID:
138016
Concept ID:
C0345371
Congenital Abnormality
Leg shortening because of underdevelopment of one or more bones of the lower extremity.
Upper limb undergrowth
MedGen UID:
324789
Concept ID:
C1837406
Finding
Arm shortening because of underdevelopment of one or more bones of the upper extremity.
Tetralogy of Fallot
MedGen UID:
21498
Concept ID:
C0039685
Congenital Abnormality
People with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nCritical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Bilateral trilobed lung
MedGen UID:
756785
Concept ID:
C3164377
Congenital Abnormality
Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes.
Thin skin
MedGen UID:
140848
Concept ID:
C0423757
Finding
Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.
Decreased fetal movement
MedGen UID:
68618
Concept ID:
C0235659
Finding
An abnormal reduction in quantity or strength of fetal movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCocoon syndrome

Professional guidelines

PubMed

Akbulut S
World J Gastroenterol 2015 Jan 14;21(2):675-87. doi: 10.3748/wjg.v21.i2.675. PMID: 25593498Free PMC Article

Recent clinical studies

Etiology

Bozan MB, Kanat BH, Yazar FM, Kutluer N, Azak Bozan A, Aksu A, Boran ÖF, Güler Ö
Arch Iran Med 2021 Jun 1;24(6):447-452. doi: 10.34172/aim.2021.64. PMID: 34488306
Song WJ, Liu XY, Saad GAA, Khan A, Yang KY, Zhang Y, Liu JY, He LY
BMC Gastroenterol 2020 Oct 14;20(1):334. doi: 10.1186/s12876-020-01466-x. PMID: 33054747Free PMC Article
Çolak Ş, Bektaş H
Ulus Travma Acil Cerrahi Derg 2019 Nov;25(6):575-579. doi: 10.14744/tjtes.2019.48380. PMID: 31701503
Allam H, Al Yahri O, Mathew S, Darweesh A, Suliman AN, Abdelaziem S, Khairat M, Toro A, Di Carlo I
BMC Surg 2016 Dec 13;16(1):81. doi: 10.1186/s12893-016-0198-2. PMID: 27964725Free PMC Article
Matone J, Herbella F, Del Grande JC
Clin Gastroenterol Hepatol 2006 May;4(5):xxxi. doi: 10.1016/j.cgh.2005.12.005. PMID: 16630775

Diagnosis

Tambuzzi S, Gentile G, Boracchi M, Zoja R, Gentilomo A
Forensic Sci Med Pathol 2023 Jun;19(2):273-279. Epub 2022 Dec 2 doi: 10.1007/s12024-022-00562-6. PMID: 36459388
Çolak Ş, Bektaş H
Ulus Travma Acil Cerrahi Derg 2019 Nov;25(6):575-579. doi: 10.14744/tjtes.2019.48380. PMID: 31701503
Pokharel P, Bista Y, Desar R, Benjankar RB, Sharma P
J Nepal Health Res Counc 2019 Aug 4;17(2):264-266. doi: 10.33314/jnhrc.v0i0.1934. PMID: 31455947
Karl AP, Leebmann H, Zorger N
Dtsch Arztebl Int 2019 Jul 8;116(27-28):486. doi: 10.3238/arztebl.2019.0486b. PMID: 31431239Free PMC Article
Akbulut S
World J Gastroenterol 2015 Jan 14;21(2):675-87. doi: 10.3748/wjg.v21.i2.675. PMID: 25593498Free PMC Article

Therapy

Liang JL, Chen ZQ, Yi Z, Kun Ming W
Medicine (Baltimore) 2022 Dec 2;101(48):e32122. doi: 10.1097/MD.0000000000032122. PMID: 36482551Free PMC Article
Pandey A, Karki C, Thapa M
JNMA J Nepal Med Assoc 2018 Jul-Aug;56(212):808-810. doi: 10.31729/jnma.3683. PMID: 30387475Free PMC Article
Fei X, Yang HR, Yu PF, Sheng HB, Gu GL
World J Gastroenterol 2016 May 28;22(20):4958-62. doi: 10.3748/wjg.v22.i20.4958. PMID: 27239122Free PMC Article
Anantha RV, Salvadori MI, Hussein MH, Merritt N
Lancet Infect Dis 2015 Dec;15(12):1498. Epub 2015 Nov 16 doi: 10.1016/S1473-3099(15)00438-7. PMID: 26607132
Cambria RP, Shamberger RC
Surgery 1984 Apr;95(4):501-3. PMID: 6710346

Prognosis

Liang JL, Chen ZQ, Yi Z, Kun Ming W
Medicine (Baltimore) 2022 Dec 2;101(48):e32122. doi: 10.1097/MD.0000000000032122. PMID: 36482551Free PMC Article
Song WJ, Liu XY, Saad GAA, Khan A, Yang KY, Zhang Y, Liu JY, He LY
BMC Gastroenterol 2020 Oct 14;20(1):334. doi: 10.1186/s12876-020-01466-x. PMID: 33054747Free PMC Article
Akbulut S
World J Gastroenterol 2015 Jan 14;21(2):675-87. doi: 10.3748/wjg.v21.i2.675. PMID: 25593498Free PMC Article
Zanfi C, Lauro A, Cescon M, Dazzi A, Ercolani G, Grazi GL, Zanello M, Vivarelli M, Del Gaudio M, Ravaioli M, Cucchetti A, Vetrone G, Tuci F, Di Gioia P, Lazzarotto T, D'Errico A, Bagni A, Faenza S, Siniscalchi A, Pironi L, Pinna AD
Transplant Proc 2010 Jan-Feb;42(1):39-41. doi: 10.1016/j.transproceed.2009.12.020. PMID: 20172277
Matone J, Herbella F, Del Grande JC
Clin Gastroenterol Hepatol 2006 May;4(5):xxxi. doi: 10.1016/j.cgh.2005.12.005. PMID: 16630775

Clinical prediction guides

Tambuzzi S, Gentile G, Boracchi M, Zoja R, Gentilomo A
Forensic Sci Med Pathol 2023 Jun;19(2):273-279. Epub 2022 Dec 2 doi: 10.1007/s12024-022-00562-6. PMID: 36459388
Çolak Ş, Bektaş H
Ulus Travma Acil Cerrahi Derg 2019 Nov;25(6):575-579. doi: 10.14744/tjtes.2019.48380. PMID: 31701503
Hammond NL, Dixon J, Dixon MJ
Semin Cell Dev Biol 2019 Jul;91:75-83. Epub 2017 Aug 10 doi: 10.1016/j.semcdb.2017.08.021. PMID: 28803895
Pandey A, Karki C, Thapa M
JNMA J Nepal Med Assoc 2018 Jul-Aug;56(212):808-810. doi: 10.31729/jnma.3683. PMID: 30387475Free PMC Article
Akbulut S
World J Gastroenterol 2015 Jan 14;21(2):675-87. doi: 10.3748/wjg.v21.i2.675. PMID: 25593498Free PMC Article

Recent systematic reviews

Chorti A, Panidis S, Konstantinidis D, Cheva A, Papavramidis T, Michalopoulos A, Paramythiotis D
Medicine (Baltimore) 2022 Jul 8;101(27):e29837. doi: 10.1097/MD.0000000000029837. PMID: 35801789Free PMC Article

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