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Amniotic band syndrome(ABS)

MedGen UID:
66322
Concept ID:
C0220724
Congenital Abnormality
Synonyms: AMNIOTIC BAND SEQUENCE; Amniotic bands sequence; Congenital constricting bands; Familial amniotic bands; STREETER ANOMALY
 
Monarch Initiative: MONDO:0015167
OMIM®: 217100
Orphanet: ORPHA295000

Definition

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. [from ORDO]

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Hand polydactyly
MedGen UID:
510636
Concept ID:
C0158733
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Ectopia cordis
MedGen UID:
41703
Concept ID:
C0013580
Congenital Abnormality
Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall.
Bladder exstrophy
MedGen UID:
2661
Concept ID:
C0005689
Disease or Syndrome
Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall.
Gastroschisis
MedGen UID:
82721
Concept ID:
C0265706
Disease or Syndrome
Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981).
Encephalocele
MedGen UID:
1646412
Concept ID:
C4551722
Congenital Abnormality
A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
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).
Abnormal rib cage morphology
MedGen UID:
871275
Concept ID:
C4025763
Anatomical Abnormality
A morphological anomaly of the rib cage.
Abnormal lung lobation
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
A developmental defect in the formation of pulmonary lobes.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Eyelid coloboma
MedGen UID:
141737
Concept ID:
C0521573
Congenital Abnormality
A short discontinuity of the margin of the lower or upper eyelid.
Tessier cleft
MedGen UID:
146898
Concept ID:
C0685787
Congenital Abnormality
A congenital malformation with a cleft (gap or opening) in the face.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Professional guidelines

PubMed

Inglesby DC, Janssen PL, Graziano FD, Gopman JM, Rutland JW, Taub PJ
Plast Reconstr Surg 2023 Aug 1;152(2):338e-346e. Epub 2023 Jul 27 doi: 10.1097/PRS.0000000000010420. PMID: 37498929
Dąbkowska S, Kucińska-Chahwan A, Beneturska A, Ilnicka A, Nowakowska B, Panek G, Roszkowski T, Bijok J
Prenat Diagn 2020 Apr;40(5):612-617. Epub 2020 Feb 12 doi: 10.1002/pd.5654. PMID: 32003477
Moran SL, Jensen M, Bravo C
J Am Acad Orthop Surg 2007 Jul;15(7):397-407. doi: 10.5435/00124635-200707000-00005. PMID: 17602029

Recent clinical studies

Etiology

Inglesby DC, Janssen PL, Graziano FD, Gopman JM, Rutland JW, Taub PJ
Plast Reconstr Surg 2023 Aug 1;152(2):338e-346e. Epub 2023 Jul 27 doi: 10.1097/PRS.0000000000010420. PMID: 37498929
Bergman JEH, Barišić I, Addor MC, Braz P, Cavero-Carbonell C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Khoshnood B, Klungsøyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, Martin D, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Sayers G, Schaub B, Stevens S, Tucker D, Verellen-Dumoulin C, Wiesel A, Gerkes EH, Perraud A, Loane MA, Wellesley D, de Walle HEK
Am J Med Genet A 2023 Apr;191(4):995-1006. Epub 2022 Dec 30 doi: 10.1002/ajmg.a.63107. PMID: 36584346
Shabani B, Bytyqi D, Bytyqi C
Eur J Med Res 2021 Feb 16;26(1):21. doi: 10.1186/s40001-021-00492-z. PMID: 33593432Free PMC Article
López-Muñoz E, Becerra-Solano LE
Arch Argent Pediatr 2018 Jun 1;116(3):e409-e420. doi: 10.5546/aap.2018.eng.e409. PMID: 29756715
Moore MH
J Craniofac Surg 1996 Nov;7(6):408-11. doi: 10.1097/00001665-199611000-00003. PMID: 10332258

Diagnosis

Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B5-B8. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.176. PMID: 33168213
López-Muñoz E, Becerra-Solano LE
Arch Argent Pediatr 2018 Jun 1;116(3):e409-e420. doi: 10.5546/aap.2018.eng.e409. PMID: 29756715
Kawamura K, Chung KC
Hand Clin 2009 May;25(2):257-64. doi: 10.1016/j.hcl.2008.10.007. PMID: 19380064
Narang M, Khalil S, Faridi MM
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Seeds JW, Cefalo RC, Herbert WN
Am J Obstet Gynecol 1982 Oct 1;144(3):243-8. doi: 10.1016/0002-9378(82)90574-9. PMID: 7124837

Therapy

Yazawa O, Hirokawa D, Okamoto K, Tanaka M, Shibasaki J, Sato H
Childs Nerv Syst 2022 Jul;38(7):1405-1408. Epub 2021 Nov 5 doi: 10.1007/s00381-021-05406-2. PMID: 34739550
Syvänen J, Raitio A, Nietosvaara Y, Heiskanen S, Lahesmaa-Korpinen AM, Löyttyniemi E, Gissler M, Helenius I
J Pediatr Orthop 2021 Jan;41(1):e94-e97. doi: 10.1097/BPO.0000000000001686. PMID: 32991492
He T, Xu H, Sui P, Wang X, Sun Y
J Int Med Res 2020 Sep;48(9):300060520949755. doi: 10.1177/0300060520949755. PMID: 32954908Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Mathis J, Raio L, Baud D
Prenat Diagn 2015 Jul;35(7):623-36. Epub 2015 Apr 5 doi: 10.1002/pd.4587. PMID: 25736523

Prognosis

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Shabani B, Bytyqi D, Bytyqi C
Eur J Med Res 2021 Feb 16;26(1):21. doi: 10.1186/s40001-021-00492-z. PMID: 33593432Free PMC Article
López-Muñoz E, Becerra-Solano LE
Arch Argent Pediatr 2018 Jun 1;116(3):e409-e420. doi: 10.5546/aap.2018.eng.e409. PMID: 29756715
Mathis J, Raio L, Baud D
Prenat Diagn 2015 Jul;35(7):623-36. Epub 2015 Apr 5 doi: 10.1002/pd.4587. PMID: 25736523
Moran SL, Jensen M, Bravo C
J Am Acad Orthop Surg 2007 Jul;15(7):397-407. doi: 10.5435/00124635-200707000-00005. PMID: 17602029

Clinical prediction guides

Thakur S, Chaddha V, Gupta R, Singh C, Dagar S, Shastri A, Tiwari B, Kavitha, Sethia V, Malik M, Jain P, Kapoor A, Kapoor A, Kapoor T, Kapoor A, Kapoor R, Kumar M, Uppal R
J Clin Ultrasound 2023 Jan;51(1):96-106. Epub 2022 Aug 10 doi: 10.1002/jcu.23273. PMID: 36639848
Schirwani S, van Dijk FS, Cauldwell M, Harrison RE, Kraus A, Brennan P, Ghali N, Lahiri N, Johnson D, Sobey G
Eur J Med Genet 2022 Oct;65(10):104592. Epub 2022 Aug 12 doi: 10.1016/j.ejmg.2022.104592. PMID: 35964932
Adrien N, Petersen JM, Parker SE, Werler MM
Birth Defects Res 2020 Aug;112(14):1074-1084. Epub 2020 Jun 23 doi: 10.1002/bdr2.1740. PMID: 32573119Free PMC Article
López-Muñoz E, Becerra-Solano LE
Arch Argent Pediatr 2018 Jun 1;116(3):e409-e420. doi: 10.5546/aap.2018.eng.e409. PMID: 29756715
Randel SB, Filly RA, Callen PW, Anderson RL, Golbus MS
Radiology 1988 Mar;166(3):633-6. doi: 10.1148/radiology.166.3.3277238. PMID: 3277238

Recent systematic reviews

Lafitte AS, Verspyck E, Jeanne Pasquier C, Dolley P, Dreyfus M, Benoist G
J Ultrasound Med 2017 Nov;36(11):2373-2377. Epub 2017 Jul 24 doi: 10.1002/jum.14295. PMID: 28736902
Menekse G, Mert MK, Olmaz B, Celik T, Celik US, Okten AI
Pediatr Neurosurg 2015;50(4):204-9. Epub 2015 Jul 8 doi: 10.1159/000433603. PMID: 26159096

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