Constriction rings syndrome

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.



Input patient's signs and symptoms


Narrow down the case reports



Total: 107 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
9
(39.0%)		 21080173
 Amniotic band syndrome with tethering of the spinal cord: a case-based update.
Pettorini B, Abbas N, Magdum S.
Childs Nerv Syst. 2011;27(2):211-4.
Encephalocele
Amniotic Band Syndrome Females Homo sapiens Infant Infant, Newborn Neural Tube Defects Preterm Infant Spinal Cord
9
(39.0%)		 19797022
 Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review.
Chen CP, Liu YP, Tsai FJ, Chen CY, Lin HH, Wu PC, Wang W.
Taiwan J Obstet Gynecol. 2009;48(3):286-91.
Acrania
Females Homo sapiens Magnetic Resonance Imaging Male Neural Tube Defects Pregnancy Young Adult
9
(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
9
(39.0%)		 18442303
 Cranial vault defects: the description of three cases that illustrate a spectrum of anomalies.
Evans C, Marton T, Rutter S, Anumba DO, Whitby EH, Cohen MC.
Pediatr Dev Pathol. 2009;12(2):96-102.
Acrania
Autopsy Craniofacial Abnormalities Fatal Outcome Fetus Gestational Age Homo sapiens Magnetic Resonance Imaging Male
9
(39.0%)		 17560504
 Bilateral periventricular nodular heterotopia with amniotic band syndrome.
Ruggieri M, Spalice A, Polizzi A, Roggini M, Iannetti P.
Pediatr Neurol. 2007;36(6):407-10.
Acrania
FLNA
Amniotic Band Syndrome Brain Diseases Cerebral Ventricles Child Congenital Foot Deformity Ectopic Tissue Females Homo sapiens Infant, Newborn Magnetic Resonance Imaging
9
(39.0%)		 15124194
 Prenatal sonographic diagnosis of acrania associated with amniotic bands.
Chen CP, Chang TY, Lin YH, Wang W.
J Clin Ultrasound. 2004;32(5):256-60.
Acrania
Adult Amniotic Band Syndrome Females Fingers Homo sapiens Infant, Newborn Male Neural Tube Defects Pregnancy Ultrasonography, Prenatal
9
(39.0%)		 14607048
 Prenatal diagnosis of acrania associated with amniotic band syndrome.
Cincore V, Ninios AP, Pavlik J, Hsu CD.
Obstet Gynecol. 2003;102(5 Pt 2):1176-8.
Acrania
Adult Amniotic Band Syndrome Brain Females Homo sapiens Infant, Newborn Male Neural Tube Defects Pregnancy Ultrasonography, Prenatal
9
(39.0%)		 11423777
 Open thoracic meningocele associated with amniotic band syndrome.
Jackson T.
Pediatr Neurosurg. 2001;34(5):252-4.
Encephalocele
Amniotic Band Syndrome Homo sapiens Infant, Newborn Male Thoracic Diseases
9
(39.0%)		 10705926
 Spinal cord tethering associated with amniotic band syndrome.
Prabhu VC, Tomita T.
Pediatr Neurosurg. 1999;31(4):177-82.
Encephalocele
Amniotic Band Syndrome Females Homo sapiens Infant Infant, Newborn Magnetic Resonance Imaging Neural Tube Defects Spinal Cord
9
(39.0%)		 10640875
 Amniotic band syndrome in triplet pregnancy.
Suzuki S, Yoneyama Y, Sawa R, Sinagawa T, Hayashi T, Araki T.
Fetal Diagn Ther. 1999;14(6):351-3.
Encephalocele
Adult Amniotic Band Syndrome Fatal Outcome Females Fetal Growth Retardation Gestational Age Homo sapiens Infant, Newborn Male Pregnancy Premature Obstetric Labor Ultrasonography
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 41

HPO ID Term # of case reports
HP:0002323 Anencephaly 6
HP:0001159 Syndactyly 5
HP:0002084 Encephalocele 4
HP:0030716 Acrania 4
HP:0002435 Meningocele 3
HP:0030769 Exencephaly 3
HP:0001562 Oligohydramnios 2
HP:0002650 Scoliosis 2
HP:0005864 Pseudoarthrosis 2
HP:0010866 Abdominal wall defect 2
HP:0100699 Scarring 2
HP:0100758 Gangrene 2
HP:0000201 Pierre-Robin sequence 1
HP:0000252 Microcephaly 1
HP:0000486 Strabismus 1
HP:0000508 Ptosis 1
HP:0000528 Anophthalmia 1
HP:0000568 Microphthalmia 1
HP:0000589 Coloboma 1
HP:0000969 Edema 1
HP:0001171 Split hand 1
HP:0001289 Confusion 1
HP:0001839 Split foot 1
HP:0001883 Talipes 1
HP:0002119 Ventriculomegaly 1
HP:0002144 Tethered cord 1
HP:0002414 Spina bifida 1
HP:0002617 Dilatation 1
HP:0003422 Vertebral segmentation defect 1
HP:0003980 Pseudarthrosis of the radius 1
HP:0007858 Chorioretinal lacunae 1
HP:0009792 Teratoma 1
HP:0010442 Polydactyly 1
HP:0010878 Fetal cystic hygroma 1
HP:0012032 Lipoma 1
HP:0030779 Ethmocephaly 1
HP:0030855 Anterior staphyloma 1
HP:0100258 Preaxial polydactyly 1
HP:0100259 Postaxial polydactyly 1
HP:0100537 Fasciitis 1
HP:0410030 Cleft lip 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID