congenital anomaly (birth defect)
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Introduction
An anomaly established during intrauterine life, present at birth.
Etiology
- maternal age > 36 years
- paternal age ?[3]
- maternal obesity[4]
- 20% of birth defects with identifiable cause[7]
Epidemiology
- incidence: 3.1% (USA)
Management
- prevention
- healthy diet reduces risk[6]
More general terms
More specific terms
- 3p deletion syndrome
- ablepharon
- alacrima
- alopecia universalis congenita
- alveolar capillary dysplasia (includes: congenital alveolar capillary dysplasia, CACD, familial persistent pulmonary hypertension of the newborn)
- ambiguous genitalia
- ankloglossia
- ankyloblepharon-ectodermal defects-cleft lip/palate (AEC syndrome)
- anonychia congenita
- anterior segment mesenchymal dysgenesis (anterior segment ocular dysgenesis)
- aplasia cutis
- atresia (atretic, atresic, imperforate)
- atrichia with papular lesions
- bladder extrophy
- branchial cleft remnant
- choanal atresia
- choledochal cyst; biliary cyst (includes: choledochocele, Caroli's disease)
- clubfoot (talipes equinovarus)
- congenital absence of inferior vena cava
- congenital afibrinogenemia
- congenital bronchiectasis
- congenital cataracts
- congenital contracture syndrome; Israeli Bedouin multiple contracture syndrome
- congenital diarrhea
- congenital dyserythropoietic anemia (CDA-II or HEM-PAS)
- congenital heart disease; congenital cyanotic heart disease
- congenital lipodystrophy
- congenital myasthenic syndrome with acetylcholine receptor (nAChR) deficiency (ACHRDCMS)
- congenital myopathy due to ITGA7 defect
- congenital myopathy with excess of thin myofilaments
- congenital myopathy with fiber-type disproportion
- congenital night blindness
- congenital obstruction of nasolacrimal duct
- conotruncal heart malformation
- cortical dysplasia-focal epilepsy syndrome (CDFE syndrome)
- Cowper's duct cyst
- craniofacial dysharmony
- cystic hygroma; cystic lymphangioma
- Dandy-Walker malformation
- dextroposition of aorta
- Duane retraction syndrome
- dystonia juvenile-onset
- epispadias
- familial horizontal gaze palsy with progressive scoliosis (HGPPS)
- gastroschisis
- gonadal dysgenesis
- hermaphrodite
- horseshoe kidney
- hypognathia
- hypospadias
- iniencephaly
- interrupted aortic arch
- iridogoniodysgenesis anomaly
- Kommerell's diverticulum
- laryngeal web
- laryngomalacia
- left-right axis malformation
- lethal congenital contracture syndrome type 2; Israeli Bedouin multiple contracture syndrome type A (LCCS2)
- lethal congenital contracture syndrome type 3; Israeli Bedouin multiple contracture syndrome type B (LCCS3)
- macrodactylia
- May-Hegglin anomaly
- metatarsus adductus
- microblepharia
- microblepharon
- microchelia
- microsomia
- mirror-image polydactyly of hands & feet without other anomalies
- muscle-eye-brain disease (MEB)
- oligomeganephronia
- omphalocele
- orofacial cleft
- Pelger-Huet anomaly
- persistent fetal circulation; persistent pulmonary hypertension of the newborn
- Peters anomaly
- polydactyly
- polyotia
- pseudocoarctation of aorta
- renal aplasia/agenesis
- renal tubular dysgenesis
- rhombencephalosynapsis
- rib anomaly
- tetra-amelia
- trigonocephaly
- ureterocele
- vaginal septum
- visceral heterotaxy
- X-linked adrenal hypoplasia congenital
References
- ↑ Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
- ↑ Journal Watch 24(15):121-122, 2004 Covington DL, Conner SD, Doi PA, Swinson J, Daniels EM. Risk of birth defects associated with nelfinavir exposure during pregnancy. Obstet Gynecol. 2004 Jun;103(6):1181-9. PMID: https://www.ncbi.nlm.nih.gov/pubmed/15172850
- ↑ 3.0 3.1 Zhu JL, Madsen KM, Vestergaard M, Olesen AV, Basso O, Olsen J. Paternal age and congenital malformations. Hum Reprod. 2005 Nov;20(11):3173-7. Epub 2005 Jul 8. PMID: https://www.ncbi.nlm.nih.gov/pubmed/16006461
- ↑ 4.0 4.1 Waller DK, Shaw GM, Rasmussen SA, Hobbs CA, Canfield MA, Siega-Riz AM, Gallaway MS, Correa A; National Birth Defects Prevention Study. Prepregnancy obesity as a risk factor for structural birth defects. Arch Pediatr Adolesc Med. 2007 Aug;161(8):745-50. PMID: https://www.ncbi.nlm.nih.gov/pubmed/17679655
- ↑ 5.0 5.1 Biggio JR Jr et al. Fetal anomalies in obese women: The contribution of diabetes. Obstet Gynecol 2010 Feb; 115:290. PMID: https://www.ncbi.nlm.nih.gov/pubmed/20093901
- ↑ 6.0 6.1 Carmichael SL Reduced Risks of Neural Tube Defects and Orofacial Clefts With Higher Diet Quality. Arch Pediatr Adolesc Med. Published online October 3, 2011 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/21969361 <Internet> http://archpedi.ama-assn.org/cgi/content/short/archpediatrics.2011.185
- ↑ 7.0 7.1 Feldkamp ML, Carey JC, Byrne JLB, Krikov S, Botto LD. Etiology and clinical presentation of birth defects: population based study. BMJ 2017;357:j2249 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28559234 Free Article <Internet> http://www.bmj.com/content/357/bmj.j2249
- ↑ 8.0 8.1 Persson M, Cnattingius S, Villamor E et al Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons. BMJ 2017;357:j2563 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/28615173 Free PMC Article <Internet> http://www.bmj.com/content/357/bmj.j2563
- ↑ Genetics/Birth Defects http://health.nih.gov/search.asp/9