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%)		 10634833
 Fetal acalvaria with amniotic band syndrome.
Chandran S, Lim MK, Yu VY.
Arch Dis Child Fetal Neonatal Ed. 2000;82(1):F11-3.
Acrania
Amniotic Band Syndrome Brain Dura Mater Homo sapiens Infant, Newborn Male
9
(39.0%)		 6395127
 Amniotic band syndrome causing fetal head deformity.
Hughes RM, Benzie RJ, Thompson CL.
Prenat Diagn. 1984;4(6):447-50.
Encephalocele
Adult Amniotic Band Syndrome Brain Females Homo sapiens Infant, Newborn Pregnancy Ultrasonography
9
(39.0%)		 3903051
 [Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)].
Serville F, Carles D, Mainguene M, Maugey B, Vanga A.
J Genet Hum. 1985;33(3-4):301-12.
Encephalocele
Adult Amniotic Band Syndrome Anencephaly Arthrogryposis Chromosome Aberrations Congenital Abnormality Females Fetus Homo sapiens Male Middle Aged Osteogenesis Imperfecta Pregnancy Ultrasonography
9
(39.0%)		 3887916
 Discordant amniotic band sequence in monozygotic twins.
Donnenfeld AE, Dunn LK, Rose NC.
Am J Med Genet. 1985;20(4):685-94.
Encephalocele
Adult Amniotic Band Syndrome Amniotic Fluid Diseases in Twins Females Genetic Counseling High-Risk Pregnancy Homo sapiens Infant, Newborn Maternal Age Pregnancy Risk Ultrasonography
9
(39.0%)		 3425634
 Amniotic band sequence and its neurocutaneous manifestations.
Chen H, Gonzalez E.
Am J Med Genet. 1987;28(3):661-73.
Microcephaly
Adult Amniotic Band Syndrome Females Fetal Diseases Homo sapiens Infant, Newborn Limb Deformities, Congenital Male Pregnancy
9
(39.0%)		 1472352
 A counseling dilemma involving anencephaly, acrania and amniotic bands.
Harrington BJ, Horger EO, Edwards JG.
Genet Couns. 1992;3(4):183-6.
Acrania
Adult Amniotic Band Syndrome Anencephaly Females Genetic Counseling Homo sapiens Infant, Newborn Male Pregnancy Pregnancy Trimester, Second Ultrasonography, Prenatal
27
(37.8%)		 25075884
 Congenital band syndrome with pseudarthrosis of the radius and ulna and impending vascular compromise: a case report.
Ho CA, Richards BS, Ezaki M.
J Pediatr Orthop. 2014;34(6):e14-8.
Edema Pseudarthrosis of the radius
Amniotic Band Syndrome Homo sapiens Infant, Newborn Infant, Premature, Diseases Male Preterm Infant Pseudarthrosis Retrospective Studies
28
(35.4%)		 11057563
 Congenital balloon digits in two neonates caused by constriction rings.
Nogami H, Ito H, Arao K, Oki T, Futamura M.
Pediatr Surg Int. 2000;16(7):533-5.
Cyanosis Long fingers
Congenital Foot Deformity Congenital Hand Deformities Females Fibrosis Fingers Homo sapiens Infant, Newborn Lymphedema Stenosis Toes
28
(35.4%)		 3025285
 Symphalangism associated with constriction rings: syndactyly and brachytelophalangy in a black patient.
Siemian WR, Greider JL Jr.
J Hand Surg Am. 1986;11(6):841-3.
Syndactyly Long fingers
African American Child Congenital Hand Deformities Females Hand Homo sapiens Syndactyly
30
(34.6%)		 3066221
 Congenital scalp defects with distal limb anomalies (Adams-Oliver syndrome): report of ten cases and review of the literature.
Kuster W, Lenz W, Kaariainen H, Majewski F.
Am J Med Genet. 1988;31(1):99-115.
Split hand
ARL2BP
Females Fingers Homo sapiens Infant, Newborn Male Syndrome Toes
        

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