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congenital anomaly (birth defect)

An anomaly established during intrauterine life, present at birth. Etiology: 1) maternal age > 36 years 2) paternal age ? [3] - mutations of male gametes induced by biological or environmental factors 3) maternal obesity [4] - maternal diabetes, not obesity [5] - risk for major malformations increases with increasing maternal BMI at the first prenatal visit [8] 4) 20% of birth defects with identifiable cause [7] Epidemiology: - incidence: 3.1% (USA) Management: - prevention - healthy diet reduces risk [6]

Specific

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

General

anomaly developmental disorder

References

  1. Stedman's Medical Dictionary 27th ed, Williams & Wilkins, Baltimore, 1999
  2. 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: 15172850
  3. 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: 16006461
  4. 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: 17679655
  5. Biggio JR Jr et al. Fetal anomalies in obese women: The contribution of diabetes. Obstet Gynecol 2010 Feb; 115:290. PMID: 20093901
  6. Carmichael SL Reduced Risks of Neural Tube Defects and Orofacial Clefts With Higher Diet Quality. Arch Pediatr Adolesc Med. Published online October 3, 2011 PMID: 21969361 http://archpedi.ama-assn.org/cgi/content/short/archpediatrics.2011.185
  7. Feldkamp ML, Carey JC, Byrne JLB, Krikov S, Botto LD. Etiology and clinical presentation of birth defects: population based study. BMJ 2017;357:j2249 PMID: 28559234 Free Article http://www.bmj.com/content/357/bmj.j2249
  8. 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 PMID: 28615173 Free PMC Article http://www.bmj.com/content/357/bmj.j2563
  9. Genetics/Birth Defects http://health.nih.gov/search.asp/9