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.



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Total: 107 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(64.6%)		 8779319
 New syndrome?: MCA/MR syndrome with multiple circumferential skin creases.
Elliott AM, Ludman M, Teebi AS.
Am J Med Genet. 1996;62(1):23-5.
Micrognathia High forehead Telecanthus Long fingers
Adult Child, Preschool Females Homo sapiens Intellectual Disability Leg Male Middle Aged Skin Abnormalities Syndrome
2
(57.8%)		 29634607
 Amniotic Band Syndrome: A Review of 2 Cases.
Madan S, Chaudhuri Z.
Ophthalmic Plast Reconstr Surg. 2018;34(4):e110-e113.
Telecanthus Syndactyly Cleft lip
Amniotic Band Syndrome Choroid Diseases Cornea Eye Abnormalities Females Homo sapiens Infant Iris Diseases Male Microphthalmos Retinal Diseases
3
(57.8%)		 28246561
(5299194)
 Management of the Amniotic Band Syndrome with Cleft Palate: Literature Review and Report of a Case.
Cortez-Ortega C, Garrocho-Rangel JA, Flores-Velazquez J, Ruiz-Rodriguez S, Noyola-Frias MA, Santos-Diaz MA, Pozos-Guillen A.
Case Rep Dent. 2017;2017:7620416.
Micrognathia
4
(54.1%)		 10383780
 Radius hypoplasia, radial palsy, and aplasia cutis due to amniotic band syndrome.
Nagore E, Sanchez-Motilla JM, Febrer MI, Cremades B, Aleu M, Aliaga A.
Pediatr Dermatol. 1999;16(3):217-9.
Hypoplasia of the radius
Amniotic Band Syndrome Ectodermal Dysplasia Females Forearm Homo sapiens Infant, Newborn
5
(53.3%)		 3292449
 Amniotic band syndrome.
Ray M, Hendrick SJ, Raimer SS, Blackwell SJ.
Int J Dermatol. 1988;27(5):312-4.
Syndactyly Cleft lip
Amniotic Band Syndrome Homo sapiens Infant, Newborn Male Rupture
6
(48.8%)		 19606475
 Developmental anomalies with features of disorganization (Ds) and amniotic band sequence (ABS): A report of four cases.
Purandare SM, Ernst L, Medne L, Huff D, Zackai EH.
Am J Med Genet A. 2009;149A(8):1740-8.
Syndactyly Encephalocele
Adult Amniotic Band Syndrome Animals Cleft Palate Congenital Abnormality Embryo Loss Fatal Outcome Females Homo sapiens Infant Infant, Newborn Male Mice, Mutant Strains Mus Young Adult
6
(48.8%)		 11045592
 Amniotic band sequence versus the autosomal recessive microcephaly, facial clefting, and preaxial polydactyly syndrome.
Guion-Almeida ML, Richieri-Costa A.
Clin Dysmorphol. 2000;9(4):297-9.
Microcephaly Preaxial polydactyly
Amniotic Band Syndrome Face Genes, Recessive Homo sapiens Infant, Newborn Male Microcephaly Polydactyly
8
(45.9%)		 21375678
 3D/4D sonographic evaluation of amniotic band syndrome in early pregnancy: a supplement to 2D ultrasound.
Hata T, Tanaka H, Noguchi J.
J Obstet Gynaecol Res. 2011;37(6):656-60.
Acrania Cleft lip
Abortion, Eugenic Adult Amniotic Band Syndrome Females Fetal Death Homo sapiens Imaging, Three-Dimensional Infant, Newborn Patient Participation Pregnancy Pregnancy Trimester, First Pregnancy Trimester, Second Ultrasonography, Prenatal
9
(39.0%)		 29996031
 Chromosome 2 Microdeletion Syndrome in a Newborn with Amniotic Band Sequence.
Mallett T, McElroy M, Swift K, Reuter S.
S D Med. 2018;71(4):154-157.
Microcephaly
USP34
Amniotic Band Syndrome Chromosome Deletion Chromosomes, Human, Pair 2 Homo sapiens Infant, Newborn Microcephaly Syndrome
9
(39.0%)		 21837919
 Amniotic band syndrome: a case report.
Buccoliero AM, Castiglione F, Garbini F, Moncini D, Lapi E, Agostini E, Fiorini P, Taddei GL.
Pathologica. 2011;103(1):11-3.
Meningoencephalocele
Amniotic Band Syndrome Autopsy Cleft Palate Eye Abnormalities Homo sapiens Infant, Newborn Male Nose
        

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