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Gastrointestinal atresia

MedGen UID:
871218
Concept ID:
C4025697
Disease or Syndrome
Synonym: GI atresia
 
HPO: HP:0002589

Conditions with this feature

Feingold syndrome type 1
MedGen UID:
1637716
Concept ID:
C4551774
Disease or Syndrome
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Megalencephaly-polydactyly syndrome
MedGen UID:
1855924
Concept ID:
C5935591
Disease or Syndrome
Megalencephaly-polydactyly syndrome (MPAPA) is an autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy (summary by Nishio et al., 2023).

Professional guidelines

PubMed

Weusten BLAM, Bisschops R, Dinis-Ribeiro M, di Pietro M, Pech O, Spaander MCW, Baldaque-Silva F, Barret M, Coron E, Fernández-Esparrach G, Fitzgerald RC, Jansen M, Jovani M, Marques-de-Sa I, Rattan A, Tan WK, Verheij EPD, Zellenrath PA, Triantafyllou K, Pouw RE
Endoscopy 2023 Dec;55(12):1124-1146. Epub 2023 Oct 9 doi: 10.1055/a-2176-2440. PMID: 37813356
Crook H, Raza S, Nowell J, Young M, Edison P
BMJ 2021 Jul 26;374:n1648. doi: 10.1136/bmj.n1648. PMID: 34312178
Banales JM, Marin JJG, Lamarca A, Rodrigues PM, Khan SA, Roberts LR, Cardinale V, Carpino G, Andersen JB, Braconi C, Calvisi DF, Perugorria MJ, Fabris L, Boulter L, Macias RIR, Gaudio E, Alvaro D, Gradilone SA, Strazzabosco M, Marzioni M, Coulouarn C, Fouassier L, Raggi C, Invernizzi P, Mertens JC, Moncsek A, Ilyas SI, Heimbach J, Koerkamp BG, Bruix J, Forner A, Bridgewater J, Valle JW, Gores GJ
Nat Rev Gastroenterol Hepatol 2020 Sep;17(9):557-588. Epub 2020 Jun 30 doi: 10.1038/s41575-020-0310-z. PMID: 32606456Free PMC Article

Recent clinical studies

Etiology

Ebbing C, Kessler J, Moster D, Rasmussen S
Ultrasound Obstet Gynecol 2020 Apr;55(4):510-515. doi: 10.1002/uog.20359. PMID: 31132166
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article
Abele H, Starz S, Hoopmann M, Yazdi B, Rall K, Kagan KO
Fetal Diagn Ther 2012;32(4):251-5. Epub 2012 Jun 28 doi: 10.1159/000338659. PMID: 22760013
Harris J, Källén B, Robert E
Teratology 1995 Jul;52(1):15-29. doi: 10.1002/tera.1420520104. PMID: 8533109
Ericson A, Källén B, Meirik O, Westerholm P
J Occup Med 1982 Jul;24(7):515-8. PMID: 7119912

Diagnosis

Tedesco MG, Lonardo F, Ceccarini C, Cesarano C, Digilio MC, Magliozzi M, Rogaia D, Mencarelli A, Leoni C, Piscopo C, Imperatore V, Falco MT, Fontana P, Nardone AM, Novelli A, Troiani S, Seri M, Prontera P
Am J Med Genet A 2021 Apr;185(4):1204-1210. Epub 2021 Jan 14 doi: 10.1002/ajmg.a.62068. PMID: 33442900
Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article
Chen HD, Jiang H, Kan A, Huang LE, Zhong ZH, Zhang ZC, Liu JC
BMC Gastroenterol 2014 Jun 13;14:108. doi: 10.1186/1471-230X-14-108. PMID: 24928109Free PMC Article
Abele H, Starz S, Hoopmann M, Yazdi B, Rall K, Kagan KO
Fetal Diagn Ther 2012;32(4):251-5. Epub 2012 Jun 28 doi: 10.1159/000338659. PMID: 22760013
Aytar MH, Doğulu F, Cemil B, Ergün E, Kurt G, Baykaner K
Childs Nerv Syst 2007 Jun;23(6):719-21. Epub 2007 Mar 16 doi: 10.1007/s00381-007-0309-6. PMID: 17364209

Therapy

Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article

Prognosis

Ganjavi H, Siu VM, Speevak M, MacDonald PA
BMJ Case Rep 2014 Nov 12;2014 doi: 10.1136/bcr-2014-207501. PMID: 25391829Free PMC Article
Abele H, Starz S, Hoopmann M, Yazdi B, Rall K, Kagan KO
Fetal Diagn Ther 2012;32(4):251-5. Epub 2012 Jun 28 doi: 10.1159/000338659. PMID: 22760013
Aytar MH, Doğulu F, Cemil B, Ergün E, Kurt G, Baykaner K
Childs Nerv Syst 2007 Jun;23(6):719-21. Epub 2007 Mar 16 doi: 10.1007/s00381-007-0309-6. PMID: 17364209
Ashton GH, Sorelli P, Mellerio JE, Keane FM, Eady RA, McGrath JA
Br J Dermatol 2001 Feb;144(2):408-14. doi: 10.1046/j.1365-2133.2001.04038.x. PMID: 11251584
Mann SE, Nijland MJ, Ross MG
Am J Obstet Gynecol 1996 Oct;175(4 Pt 1):937-44. doi: 10.1016/s0002-9378(96)80028-7. PMID: 8885751

Clinical prediction guides

Mellerio JE, Pulkkinen L, McMillan JR, Lake BD, Horn HM, Tidman MJ, Harper JI, McGrath JA, Uitto J, Eady RA
Br J Dermatol 1998 Nov;139(5):862-71. doi: 10.1046/j.1365-2133.1998.02515.x. PMID: 9892956
Mann SE, Nijland MJ, Ross MG
Am J Obstet Gynecol 1996 Oct;175(4 Pt 1):937-44. doi: 10.1016/s0002-9378(96)80028-7. PMID: 8885751
Harris J, Källén B, Robert E
Teratology 1995 Jul;52(1):15-29. doi: 10.1002/tera.1420520104. PMID: 8533109
Ericson A, Källén B, Meirik O, Westerholm P
J Occup Med 1982 Jul;24(7):515-8. PMID: 7119912

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