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Neonatal disorder

MedGen UID:
9460
•Concept ID:
C0021290
•
Disease or Syndrome
Synonyms: Disease, Neonatal; Diseases, Neonatal; Infant, Newborn, Diseases; Neonatal Disease; Neonatal Diseases
SNOMED CT: Neonatal disorder (22925008); Neonatal disease (22925008)

Definition

A non-neoplastic or neoplastic disorder which occurs during the neonatal period. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeonatal disorder

Professional guidelines

PubMed

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment.
Harony-Nicolas H, De Rubeis S, Kolevzon A, Buxbaum JD
J Child Neurol 2015 Dec;30(14):1861-70. Epub 2015 Sep 8 doi: 10.1177/0883073815600872. PMID: 26350728Free PMC Article
Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.
Tanner SM, Laporte J, Guiraud-Chaumeil C, Liechti-Gallati S
Hum Mutat 1998;11(1):62-8. doi: 10.1002/(SICI)1098-1004(1998)11:1<62::AID-HUMU10>3.0.CO;2-X. PMID: 9450905
Management of meconium stained amniotic fluid: a team approach.
Narang A, Nair PM, Bhakoo ON, Vashisht K
Indian Pediatr 1993 Jan;30(1):9-13. PMID: 8406722

Recent clinical studies

Etiology

Neonatal sepsis as a cause of retinopathy of prematurity: An etiological explanation.
Dammann O, Stansfield BK
Prog Retin Eye Res 2024 Jan;98:101230. Epub 2023 Nov 19 doi: 10.1016/j.preteyeres.2023.101230. PMID: 37984792Free PMC Article
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis.
Li M, Tian W, Wang F, Yang C, Zhang L, Tang Q, Liu S, Wang F
Am J Med Genet A 2022 Jan;188(1):89-98. Epub 2021 Sep 21 doi: 10.1002/ajmg.a.62493. PMID: 34545694
The use of IVIg in fetal and neonatal alloimmune thrombocytopenia- Principles and mechanisms.
Wabnitz H, Khan R, Lazarus AH
Transfus Apher Sci 2020 Feb;59(1):102710. Epub 2019 Dec 31 doi: 10.1016/j.transci.2019.102710. PMID: 31926738
Indirect neonatal hyperbilirubinemia in hospitalized neonates on the Thai-Myanmar border: a review of neonatal medical records from 2009 to 2014.
Thielemans L, Trip-Hoving M, Landier J, Turner C, Prins TJ, Wouda EMN, Hanboonkunupakarn B, Po C, Beau C, Mu M, Hannay T, Nosten F, Van Overmeire B, McGready R, Carrara VI
BMC Pediatr 2018 Jun 12;18(1):190. doi: 10.1186/s12887-018-1165-0. PMID: 29895274Free PMC Article
Congenital hypothyroidism: an analysis of persisting deficits and associated factors.
Rovet JF
Child Neuropsychol 2002 Sep;8(3):150-62. doi: 10.1076/chin.8.3.150.13501. PMID: 12759831

Diagnosis

Stem Cell Based Models in Congenital Hyperinsulinism - Perspective on Practicalities and Possibilities.
Lithovius V, Otonkoski T
Front Endocrinol (Lausanne) 2022;13:837450. Epub 2022 Feb 18 doi: 10.3389/fendo.2022.837450. PMID: 35250887Free PMC Article
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A
Eur J Paediatr Neurol 2018 Nov;22(6):1042-1053. Epub 2018 Jul 3 doi: 10.1016/j.ejpn.2018.06.010. PMID: 30005813
Indirect neonatal hyperbilirubinemia in hospitalized neonates on the Thai-Myanmar border: a review of neonatal medical records from 2009 to 2014.
Thielemans L, Trip-Hoving M, Landier J, Turner C, Prins TJ, Wouda EMN, Hanboonkunupakarn B, Po C, Beau C, Mu M, Hannay T, Nosten F, Van Overmeire B, McGready R, Carrara VI
BMC Pediatr 2018 Jun 12;18(1):190. doi: 10.1186/s12887-018-1165-0. PMID: 29895274Free PMC Article
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT
Brain 2010 Jul;133(Pt 7):2148-59. Epub 2010 Jun 16 doi: 10.1093/brain/awq143. PMID: 20554659Free PMC Article
Congenital hypothyroidism: an analysis of persisting deficits and associated factors.
Rovet JF
Child Neuropsychol 2002 Sep;8(3):150-62. doi: 10.1076/chin.8.3.150.13501. PMID: 12759831

Therapy

Disseminated intravascular coagulation complicated by amniotic band syndrome associated with deceased fetal umbilical cord following fetoscopic laser surgery.
Ogoyama M, Takahashi H, Kagawa K, Shimozawa H, Yada Y, Wada S, Sago H, Fujiwara H
J Obstet Gynaecol Res 2022 Jul;48(7):1989-1996. Epub 2022 May 25 doi: 10.1111/jog.15281. PMID: 35614528
The use of IVIg in fetal and neonatal alloimmune thrombocytopenia- Principles and mechanisms.
Wabnitz H, Khan R, Lazarus AH
Transfus Apher Sci 2020 Feb;59(1):102710. Epub 2019 Dec 31 doi: 10.1016/j.transci.2019.102710. PMID: 31926738
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A
Eur J Paediatr Neurol 2018 Nov;22(6):1042-1053. Epub 2018 Jul 3 doi: 10.1016/j.ejpn.2018.06.010. PMID: 30005813
Sclerema neonatorum treated with intravenous immunoglobulin: a case report and review of treatments.
Buster KJ, Burford HN, Stewart FA, Sellheyer K, Hughey LC
Cutis 2013 Aug;92(2):83-7. PMID: 24087781
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, Hemingway C, Marlow N, Rennie J, Baxter P, Dulac O, Nabbout R, Craigen WJ, Schmitt B, Feillet F, Christensen E, De Lonlay P, Pike MG, Hughes MI, Struys EA, Jakobs C, Zuberi SM, Clayton PT
Brain 2010 Jul;133(Pt 7):2148-59. Epub 2010 Jun 16 doi: 10.1093/brain/awq143. PMID: 20554659Free PMC Article

Prognosis

Global burden and inequality of maternal and neonatal disorders: based on data from the 2019 Global Burden of Disease study.
Peng R, Tong Y, Yang M, Wang J, Yang L, Zhu J, Liu Y, Wang H, Shi Z, Liu Y
QJM 2024 Feb 7;117(1):24-37. doi: 10.1093/qjmed/hcad220. PMID: 37773990Free PMC Article
Global trends in incidence and death of neonatal disorders and its specific causes in 204 countries/territories during 1990-2019.
Ou Z, Yu D, Liang Y, He H, He W, Li Y, Zhang M, Gao Y, Wu F, Chen Q
BMC Public Health 2022 Feb 19;22(1):360. doi: 10.1186/s12889-022-12765-1. PMID: 35183143Free PMC Article
Thrombocytopenia in late preterm and term neonates after perinatal asphyxia.
Christensen RD, Baer VL, Yaish HM
Transfusion 2015 Jan;55(1):187-96. Epub 2014 Aug 1 doi: 10.1111/trf.12777. PMID: 25082082
Sclerema neonatorum treated with intravenous immunoglobulin: a case report and review of treatments.
Buster KJ, Burford HN, Stewart FA, Sellheyer K, Hughey LC
Cutis 2013 Aug;92(2):83-7. PMID: 24087781
A review of evidence for a role of magnesium and possibly copper deficiency in necrotizing enterocolitis.
Caddell JL
Magnes Res 1996 Mar;9(1):55-66. PMID: 8819095

Clinical prediction guides

Global trends in incidence and death of neonatal disorders and its specific causes in 204 countries/territories during 1990-2019.
Ou Z, Yu D, Liang Y, He H, He W, Li Y, Zhang M, Gao Y, Wu F, Chen Q
BMC Public Health 2022 Feb 19;22(1):360. doi: 10.1186/s12889-022-12765-1. PMID: 35183143Free PMC Article
An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis.
Shimono A, Imoto Y, Sakamoto H, Chiba Y, Matsumoto K, Kawauchi M, Kusaka T, Tanaka H, Hata T, Kushida Y, Ueno M
Placenta 2016 Dec;48:49-55. Epub 2016 Oct 12 doi: 10.1016/j.placenta.2016.10.005. PMID: 27871472
Infantile seborrheic dermatitis: a pediatric Siddha medicine treatise.
Thambyayah M, Amuthan A
Clin Dermatol 2015 May-Jun;33(3):355-61. Epub 2014 Dec 8 doi: 10.1016/j.clindermatol.2014.12.013. PMID: 25889138
Congenital hypothyroidism: an analysis of persisting deficits and associated factors.
Rovet JF
Child Neuropsychol 2002 Sep;8(3):150-62. doi: 10.1076/chin.8.3.150.13501. PMID: 12759831
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria.
Fellman V, Rapola J, Pihko H, Varilo T, Raivio KO
Lancet 1998 Feb 14;351(9101):490-3. doi: 10.1016/S0140-6736(97)09272-6. PMID: 9482441

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