Gastroschisis

Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.



Input patient's signs and symptoms


Narrow down the case reports



Total: 217 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(59.8%)
27625839
Cerebral hemihypoplasia and nevus flammeus in a child with oromandibular limb hypogenesis syndrome type III.
Toral-Lopez J, Cordoba-Cabeza T, Villeda M, Cortes-Castillo G, Zenteno JC.
J Pediatr Genet. 2013;2(1):43-7.
Microcephaly Hemiatrophy
2
(57.8%)
10869924
Anesthetic management for patients with arthrogryposis multiplex congenita and severe micrognathia: case reports.
Nguyen NH, Morvant EM, Mayhew JF.
J Clin Anesth. 2000;12(3):227-30.
Micrognathia
Arthrogryposis Homo sapiens Infant Infant, Newborn Intubation, Intratracheal Laryngeal Masks Male Micrognathism
3
(51.9%)
19938094
Overlap of Moebius and oromandibular limb hypogenesis syndrome with gastroschisis and pulmonary hypoplasia.
Brockmann K, Backes H, Auber B, Kriebel T, Stellmer F, Zoll B.
Am J Med Genet A. 2009;149A(12):2832-7.
Brachydactyly Facial paralysis
Females Gastroschisis Homo sapiens Infant Infant, Newborn Limb Deformities, Congenital Lung Magnetic Resonance Imaging Male Mandible Mobius Syndrome Pregnancy
4
(45.7%)
19243415
Left-sided gastroschisis with meromelia of the limbs: a rare association.
Punia RP, Dhingra N, Chopra R, Mohan H, Huria A.
Congenit Anom (Kyoto). 2009;49(1):33-4.
Meromelia
Adult Females Gastroschisis Homo sapiens Infant, Newborn Lower Extremity Deformities, Congenital Pregnancy Stillbirth Ultrasonography Upper Extremity Deformities, Congenital
5
(43.1%)
9406252
A 19-week-old fetus with craniosynostosis, renal agenesis and gastroschisis: case report and differential diagnosis.
Sergi C, Stein H, Heep JG, Otto HF.
Pathol Res Pract. 1997;193(8):579-85; discussion 587-8.
Shallow orbits
Abdominal Muscles Craniofacial Abnormalities Craniosynostosis Differential Diagnosis Fetal Diseases Gestational Age Homo sapiens Infant, Newborn Kidney Preterm Infant
6
(39.0%)
18780377
3D and 4D sonographic imaging of amniotic band syndrome in early pregnancy.
Inubashiri E, Hanaoka U, Kanenishi K, Yamashiro C, Tanaka H, Yanagihara T, Hata T.
J Clin Ultrasound. 2008;36(9):573-5.
Kyphoscoliosis Acrania
Adult Amniotic Band Syndrome Females Homo sapiens Infant, Newborn Pregnancy Ultrasonography, Prenatal
6
(39.0%)
12494439
Documentation of anomalies not previously described in Fryns syndrome.
Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E.
Am J Med Genet A. 2003;116A(2):179-82; discussion 183.
Microcephaly
Central Nervous System Differential Diagnosis Face Fatal Outcome Fingers Homo sapiens Infant, Newborn Male Microcephaly Nose Respiratory Diaphragm Syndrome
8
(30.6%)
26549084
Significance of fibrotic bands in utero--Amniotic band sequence with limb body wall complex: A rare case of fetal autopsy.
Devi PL, Cicy PJ, Thambi R, Poothiode U.
Indian J Pathol Microbiol. 2015;58(4):528-30.
Talipes equinovarus Scoliosis
Amniotic Band Syndrome Autopsy Females Fetus Gastroschisis Homo sapiens Phenotype Placenta Pregnancy
9
(30.2%)
25972657
Parasitic twin with gastroschisis is one of the rarest variant of conjoined twins: a case report.
Baskaran D, Aleem MA, Ravi R.
Indian J Surg. 2015;77(Suppl 1):90-1.
Limb duplication
10
(24.9%)
17369694
Gastroschisis with fetal chromosomal abnormality: a case report.
Guler I, Erdem A, Biri A, Gunaydin G, Yilmaz E, Erdem M, Karaoguz MY.
Fetal Diagn Ther. 2007;22(4):274-6.
Cystic hygroma
Adult Chorionic Villi Sampling Chromosome Aberrations Females Fetal Diseases Gastroschisis Genetic Counseling Head and Neck Neoplasms Homo sapiens Lymphangioma, Cystic Pregnancy Turner Syndrome Ultrasonography, Prenatal
        

Phenotype(s) retrieved from Orphanet

    Total: 3

HPO ID Term Frequency
HP:0001543 Gastroschisis Very frequent (99-80%)
HP:0011100 Intestinal atresia Frequent (79-30%)
HP:0100016 Abnormality of mesentery morphology Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 84

HPO ID Term # of case reports
HP:0010866 Abdominal wall defect 43
HP:0011100 Intestinal atresia 20
HP:0004387 Enterocolitis 6
HP:0001562 Oligohydramnios 5
HP:0002089 Pulmonary hypoplasia 5
HP:0002617 Dilatation 5
HP:0011102 Ileal atresia 5
HP:0100790 Hernia 5
HP:0002580 Volvulus 4
HP:0000126 Hydronephrosis 3
HP:0000952 Jaundice 3
HP:0001196 Short umbilical cord 3
HP:0001537 Umbilical hernia 3
HP:0005214 Intestinal obstruction 3
HP:0000822 Hypertension 2
HP:0002027 Abdominal pain 2
HP:0002098 Respiratory distress 2
HP:0002650 Scoliosis 2
HP:0002751 Kyphoscoliosis 2
HP:0002835 Aspiration 2
HP:0002878 Respiratory failure 2
HP:0003634 Amyoplasia 2
HP:0005912 Biliary atresia 2
HP:0031864 Bacteremia 2
HP:0100806 Sepsis 2
HP:0000028 Cryptorchidism 1
HP:0000029 Testicular atrophy 1
HP:0000093 Proteinuria 1
HP:0000141 Amenorrhea 1
HP:0000238 Hydrocephalus 1
HP:0000252 Microcephaly 1
HP:0000316 Hypertelorism 1
HP:0000528 Anophthalmia 1
HP:0000541 Retinal detachment 1
HP:0000568 Microphthalmia 1
HP:0000586 Shallow orbits 1
HP:0000609 Optic nerve hypoplasia 1
HP:0001156 Brachydactyly 1
HP:0001287 Meningitis 1
HP:0001321 Cerebellar hypoplasia 1
HP:0001371 Flexion contracture 1
HP:0001394 Cirrhosis 1
HP:0001511 Intrauterine growth retardation 1
HP:0001518 Small for gestational age 1
HP:0001541 Ascites 1
HP:0001558 Decreased fetal movement 1
HP:0001622 Premature birth 1
HP:0001629 Ventricular septal defect 1
HP:0001762 Talipes equinovarus 1
HP:0001873 Thrombocytopenia 1
HP:0001903 Anemia 1
HP:0002021 Pyloric stenosis 1
HP:0002139 Arrhinencephaly 1
HP:0002315 Headache 1
HP:0002435 Meningocele 1
HP:0002566 Intestinal malrotation 1
HP:0002583 Colitis 1
HP:0002612 Congenital hepatic fibrosis 1
HP:0002803 Congenital contracture 1
HP:0002861 Melanoma 1
HP:0002933 Ventral hernia 1
HP:0004388 Microcolon 1
HP:0004755 Supraventricular tachycardia 1
HP:0004756 Ventricular tachycardia 1
HP:0004947 Arteriovenous fistula 1
HP:0005984 Elevated maternal serum alpha-fetoprotein 1
HP:0007209 Facial paralysis 1
HP:0008846 Severe intrauterine growth retardation 1
HP:0010310 Chylothorax 1
HP:0011416 Placental infarction 1
HP:0012741 Unilateral cryptorchidism 1
HP:0012870 Vanishing testis 1
HP:0020110 Bone fracture 1
HP:0025023 Rectal atresia 1
HP:0025116 Fetal distress 1
HP:0030656 Umbilical vein varix 1
HP:0030716 Acrania 1
HP:0030728 Meromelia 1
HP:0030769 Exencephaly 1
HP:0031273 Shock 1
HP:0100548 Exstrophy 1
HP:0100656 Thoracoabdominal wall defect 1
HP:0100699 Scarring 1
HP:0200133 Lumbosacral meningocele 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID