Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

MedGen UID:: 14319
•Concept ID:: C0027612
•: Congenital Abnormality; Disease or Syndrome

Definition

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Professional guidelines

PubMed

Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.

Fernández-Castillejo S, Roig B, Melé M, Serrano S, Salvat M, Querol M, Brunet J, Pineda M, Cisneros A, Parada D, Badia J, Borràs J, Rodríguez-Balada M, Gumà J
J Med Genet 2023 Dec 21;61(1):69-77. doi: 10.1136/jmg-2023-109389. PMID: 37591735 Free PMC Article

Long-term outcomes of very early treated infantile-onset Pompe disease with short-term steroid premedication: experiences from a nationwide newborn screening programme.

Yang CF, Liao TE, Chu YL, Chen LZ, Huang LY, Yang TF, Ho HC, Kao SM, Niu DM
J Med Genet 2023 May;60(5):430-439. Epub 2022 Sep 22 doi: 10.1136/jmg-2022-108675. PMID: 36137614

Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.

Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J
J Med Genet 2022 Dec;59(12):1234-1240. Epub 2022 Sep 22 doi: 10.1136/jmg-2022-108439. PMID: 36137615

See all (4)

Recent clinical studies

Etiology

Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.

Jha S, Singh S
J Obstet Gynaecol Can 2022 Aug;44(8):926-930. Epub 2022 Apr 27 doi: 10.1016/j.jogc.2022.03.018. PMID: 35489673

Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Kallionpää RA, Peltonen S, Leppävirta J, Pöyhönen M, Auranen K, Järveläinen H, Peltonen J
J Med Genet 2021 Jun;58(6):378-384. Epub 2020 Jun 22 doi: 10.1136/jmedgenet-2020-107062. PMID: 32571896 Free PMC Article

Delivering hydrocephalic fetuses.

Strong C
Bioethics 1991 Jan;5(1):1-22. doi: 10.1111/j.1467-8519.1991.tb00141.x. PMID: 11650945

Alternative reproduction.

Andrews LB, Douglass L
South Calif Law Rev 1991 Nov;65(1):623-82. PMID: 11645847

Nontreatment decisions for severely compromised newborns.

Kipnis K, Williamson GM
Ethics 1984 Oct;95(1):90-111. doi: 10.1086/292603. PMID: 11651788

See all (144)

Diagnosis

Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications.

Wei Y, Jiang Y, Lu Y, Hu Q
J Med Genet 2024 Oct 23;61(11):1003-1010. doi: 10.1136/jmg-2024-110045. PMID: 39327039

Axenfeld-Rieger syndrome: more than meets the eye.

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526 Free PMC Article

Haploinsufficiency of the NF1 gene is associated with protection against diabetes.

Characteristic neuroradiologic features in hemorrhagic shock and encephalopathy syndrome.

Kuki I, Shiomi M, Okazaki S, Kawawaki H, Tomiwa K, Amo K, Togawa M, Ishikawa J, Rinka H
J Child Neurol 2015 Mar;30(4):468-75. Epub 2014 Dec 14 doi: 10.1177/0883073814558119. PMID: 25512363

Medical ethics.

Veatch RM
JAMA 1984 Oct 26;252(16):2296-300. PMID: 11644164

See all (54)

Therapy

Maternal cigarette smoking before or during pregnancy increases the risk of severe neonatal morbidity after delivery: a nationwide population-based retrospective cohort study.

Yang L, Yang L, Wang H, Guo Y, Zhao M, Bovet P, Xi B
J Epidemiol Community Health 2024 Oct 9;78(11):690-699. doi: 10.1136/jech-2024-222259. PMID: 39164080

Successful Outcome in an Adult Patient with Influenza-associated Hemorrhagic Shock and Encephalopathy Syndrome.

Komori Y, Uchida N, Soejima N, Fujita Y, Matsumoto H
Intern Med 2020 Sep 15;59(18):2321-2326. Epub 2020 Jun 9 doi: 10.2169/internalmedicine.4312-19. PMID: 32522919 Free PMC Article

Attitudes towards abortion in the Danish population.

Norup M
Bioethics 1997 Oct;11(5):439-49. doi: 10.1111/1467-8519.00083. PMID: 11655122

Was the UK collaborative ECMO trial ethical?

Lantos JD
Paediatr Perinat Epidemiol 1997 Jul;11(3):264-8. doi: 10.1111/j.1365-3016.1997.tb00003.x. PMID: 11644992

See all (4)

Prognosis

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.

Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network, Bademci G, Tekin M; Undiagnosed Diseases Network NIH
J Med Genet 2025 Jan 27;62(2):117-122. doi: 10.1136/jmg-2024-109908. PMID: 39643435 Free PMC Article

Peace and pain.

Palmer K
BMJ 1994 Jul 23;309(6949):279. doi: 10.1136/bmj.309.6949.279. PMID: 11644574 Free PMC Article

Delivering hydrocephalic fetuses.

Strong C
Bioethics 1991 Jan;5(1):1-22. doi: 10.1111/j.1467-8519.1991.tb00141.x. PMID: 11650945

Practical ethics in pediatrics.

Coulter DJ, Murray TH, Cerreto MC
Curr Probl Pediatr 1988 Mar;18(3):143-95. PMID: 11644503

Nontreatment decisions for severely compromised newborns.

Kipnis K, Williamson GM
Ethics 1984 Oct;95(1):90-111. doi: 10.1086/292603. PMID: 11651788

See all (107)

Clinical prediction guides

KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.

ZFYVE19 deficiency: a ciliopathy involving failure of cell division, with cell death.

Yang J, Zhang YN, Wang RX, Hao CZ, Qiu Y, Chi H, Luan WS, Tang H, Zhang XJ, Sun X, Sheps JA, Ling V, Cao M, Wang JS
J Med Genet 2024 Jul 19;61(8):750-758. doi: 10.1136/jmg-2023-109779. PMID: 38816193 Free PMC Article

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D
J Med Genet 2024 Jan 19;61(2):103-108. doi: 10.1136/jmg-2023-109203. PMID: 37879892

Single amino acid variation in MAB21L1 is dominantly associated with congenital eye defects.

Meng F, Li X, Zhang J, Gao Z, Yang X, Liu Z, Liu Y, Guo T, Wang L, Yang L, Wang Z
J Med Genet 2023 Jul;60(7):655-661. Epub 2022 Nov 29 doi: 10.1136/jmg-2022-108506. PMID: 36446583

Sexual and Psychosocial Outcome After Neovaginoplasty Using Interceed in Females with Mayer-Rokitansky-Küster-Hauser Syndrome: A Case-Control Study.

Jha S, Singh S
J Obstet Gynaecol Can 2022 Aug;44(8):926-930. Epub 2022 Apr 27 doi: 10.1016/j.jogc.2022.03.018. PMID: 35489673

See all (11)

MedGen

National Center for Biotechnology Information