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Abnormality of prenatal development or birth

MedGen UID:
871309
Concept ID:
C4025797
Finding
HPO: HP:0001197

Definition

An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Abnormality of prenatal development or birth

Conditions with this feature

Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Wolraich ML, Hagan JF Jr, Allan C, Chan E, Davison D, Earls M, Evans SW, Flinn SK, Froehlich T, Frost J, Holbrook JR, Lehmann CU, Lessin HR, Okechukwu K, Pierce KL, Winner JD, Zurhellen W; SUBCOMMITTEE ON CHILDREN AND ADOLESCENTS WITH ATTENTION-DEFICIT/HYPERACTIVE DISORDER
Pediatrics 2019 Oct;144(4) doi: 10.1542/peds.2019-2528. PMID: 31570648Free PMC Article
Committee on Practice Bulletins-Obstetrics
Obstet Gynecol 2017 Oct;130(4):e168-e186. doi: 10.1097/AOG.0000000000002351. PMID: 28937571

Recent clinical studies

Etiology

Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Smith V, Gallagher L, Carroll M, Hannon K, Begley C
PLoS One 2019;14(10):e0224313. Epub 2019 Oct 24 doi: 10.1371/journal.pone.0224313. PMID: 31648289Free PMC Article
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Rauen KA
Annu Rev Genomics Hum Genet 2013;14:355-69. Epub 2013 Jul 15 doi: 10.1146/annurev-genom-091212-153523. PMID: 23875798Free PMC Article
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article

Diagnosis

King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Chassagnon G, Morel B, Carpentier E, Ducou Le Pointe H, Sirinelli D
Radiographics 2016 Mar-Apr;36(2):358-73. Epub 2016 Feb 1 doi: 10.1148/rg.2016150115. PMID: 26824513
Grimbizis GF, Gordts S, Di Spiezio Sardo A, Brucker S, De Angelis C, Gergolet M, Li TC, Tanos V, Brölmann H, Gianaroli L, Campo R
Hum Reprod 2013 Aug;28(8):2032-44. Epub 2013 Jun 14 doi: 10.1093/humrep/det098. PMID: 23771171Free PMC Article
Van Steirteghem A, Devroey P, Liebaers I
Mol Cell Endocrinol 2002 Jan 25;186(2):199-203. doi: 10.1016/s0303-7207(01)00658-x. PMID: 11900896
Okonkwo JE, Crocker KM
Obstet Gynecol 1977 Jul;50(1):97-101. PMID: 876530

Therapy

O'Connell MA, Khashan AS, Leahy-Warren P, Stewart F, O'Neill SM
Cochrane Database Syst Rev 2021 Jul 7;7(7):CD013321. doi: 10.1002/14651858.CD013321.pub2. PMID: 34231203Free PMC Article
Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Herlin MK, Petersen MB, Brännström M
Orphanet J Rare Dis 2020 Aug 20;15(1):214. doi: 10.1186/s13023-020-01491-9. PMID: 32819397Free PMC Article
Chen I, Opiyo N, Tavender E, Mortazhejri S, Rader T, Petkovic J, Yogasingam S, Taljaard M, Agarwal S, Laopaiboon M, Wasiak J, Khunpradit S, Lumbiganon P, Gruen RL, Betran AP
Cochrane Database Syst Rev 2018 Sep 28;9(9):CD005528. doi: 10.1002/14651858.CD005528.pub3. PMID: 30264405Free PMC Article
Carroli G, Mignini L
Cochrane Database Syst Rev 2009 Jan 21;(1):CD000081. doi: 10.1002/14651858.CD000081.pub2. PMID: 19160176Free PMC Article

Prognosis

Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Weber MA, Sebire NJ
Semin Fetal Neonatal Med 2010 Dec;15(6):313-8. doi: 10.1016/j.siny.2010.06.002. PMID: 20663725
Kaufman MH
Childs Nerv Syst 2004 Aug;20(8-9):508-25. Epub 2004 Jul 27 doi: 10.1007/s00381-004-0985-4. PMID: 15278382
Van Steirteghem A, Devroey P, Liebaers I
Mol Cell Endocrinol 2002 Jan 25;186(2):199-203. doi: 10.1016/s0303-7207(01)00658-x. PMID: 11900896

Clinical prediction guides

Lang G, Farnell EA 4th, Quinlan JD
Am Fam Physician 2021 Jun 1;103(11):672-679. PMID: 34060788
Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER; Prenatal Assessment of Genomes and Exomes Consortium
Lancet 2019 Feb 23;393(10173):747-757. Epub 2019 Jan 31 doi: 10.1016/S0140-6736(18)31940-8. PMID: 30712880Free PMC Article
Power S, Bogossian FE, Sussex R, Strong J
Women Birth 2017 Oct;30(5):e227-e241. Epub 2017 Apr 12 doi: 10.1016/j.wombi.2017.02.001. PMID: 28411030
Avni FE, Cos T, Cassart M, Massez A, Donner C, Ismaili K, Hall M
Eur Radiol 2007 Feb;17(2):419-31. Epub 2006 May 30 doi: 10.1007/s00330-006-0307-1. PMID: 16733679

Recent systematic reviews

Marcinkowski KA, Mehta V, Mercier R, Berghella V
Am J Obstet Gynecol MFM 2022 Jul;4(4):100643. Epub 2022 Apr 8 doi: 10.1016/j.ajogmf.2022.100643. PMID: 35405372
Wigert H, Nilsson C, Dencker A, Begley C, Jangsten E, Sparud-Lundin C, Mollberg M, Patel H
Int J Qual Stud Health Well-being 2020 Dec;15(1):1704484. doi: 10.1080/17482631.2019.1704484. PMID: 31858891Free PMC Article
Chen I, Opiyo N, Tavender E, Mortazhejri S, Rader T, Petkovic J, Yogasingam S, Taljaard M, Agarwal S, Laopaiboon M, Wasiak J, Khunpradit S, Lumbiganon P, Gruen RL, Betran AP
Cochrane Database Syst Rev 2018 Sep 28;9(9):CD005528. doi: 10.1002/14651858.CD005528.pub3. PMID: 30264405Free PMC Article
Caputo C, Wood E, Jabbour L
Birth Defects Res C Embryo Today 2016 Jun;108(2):174-80. Epub 2016 Jun 13 doi: 10.1002/bdrc.21129. PMID: 27297122
Carroli G, Mignini L
Cochrane Database Syst Rev 2009 Jan 21;(1):CD000081. doi: 10.1002/14651858.CD000081.pub2. PMID: 19160176Free PMC Article

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