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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

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A
J Med Genet 2025 Mar 20;62(4):258-267. doi: 10.1136/jmg-2022-108868. PMID: 39798962

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

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 (5)

Recent clinical studies

Etiology

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V
J Med Genet 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546. PMID: 38531627

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Luyckx I, Walton IS, Boeckx N, Van Schil K, Pang C, De Praeter M, Lord H, Watson CM, Bonthron DT, Van Laer L, Wilkie AOM, Loeys B
J Med Genet 2024 Mar 21;61(4):363-368. doi: 10.1136/jmg-2023-109151. PMID: 38290823 Free PMC Article

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.

Jelsig AM, Kjeldsen A, Christensen LL, Bertelsen B, Karstensen JG, Brusgaard K, Torring PM
J Med Genet 2023 May;60(5):464-468. Epub 2022 Aug 29 doi: 10.1136/jmg-2022-108766. PMID: 36038259

Systematic evaluation of olfaction in patients with hereditary cystic kidney diseases/renal ciliopathies.

Dahmer-Heath M, Schriever V, Kollmann S, Schleithoff C, Titieni A, Cetiner M, Patzer L, Tönshoff B, Hansen M, Pennekamp P, Gerß J, Konrad M, König J
J Med Genet 2021 Sep;58(9):629-636. Epub 2020 Sep 11 doi: 10.1136/jmedgenet-2020-107192. PMID: 32917769

Delivering hydrocephalic fetuses.

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

See all (148)

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

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A
J Med Genet 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. PMID: 37586838 Free PMC Article

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

Medical ethics.

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

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Therapy

Risks of respiratory and circulatory system diseases induced by exposure to PM(2.5) in high humidity and low solar radiation environments: disease types, genes, and functions.

Li X, Zhang L, Zhang Z, Li X, Qian J, Zhou J, Che H, Han Y, Qi X, Yang F, Huang Y, Peng C, Chen Y, Xing Y, Zhang S
Environ Geochem Health 2025 Apr 6;47(5):155. doi: 10.1007/s10653-025-02465-1. PMID: 40188413

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

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Prognosis

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

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

Peace and pain.

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

Johnson v. Thompson.

U.S. Court of Appeals, Tenth Circuit
Fed Report 1992 Aug 6;971:1487-99. PMID: 11648605

Delivering hydrocephalic fetuses.

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

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Clinical prediction guides

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

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

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