Congenital Anomaly

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Introduction 3 Etiology 4 Management 5 More General Terms 6 References

More Specific Terms

• 3p deletion syndrome
• acrocephalopolysyndactyly
• alacrima
• alopecia universalis congenita
• alveolar capillary dysplasia (includes: congenital alveolar capillary dysplasia, CACD, familial persistent pulmonary hypertension of the newborn)
• ankloglossia
• anterior segment mesenchymal dysgenesis (anterior segment ocular dysgenesis)
• atresia (atretic, atresic, imperforate)
• atrichia with papular lesions
• choanal atresia
• choledochal cyst (includes: choledochocele, Caroli's disease)
• clubfoot (talipes equinovarus)
• congenital afibrinogenemia
• congenital contracture syndrome; Israeli Bedouin multiple contracture syndrome
• 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
• conotruncal heart malformation
• cortical dysplasia-focal epilepsy syndrome (CDFE syndrome)
• Dandy-Walker malformation
• Duane retraction syndrome
• dystonia juvenile-onset
• Ebstein's anomaly
• familial horizontal gaze palsy with progressive scoliosis (HGPPS)
• hypognathia
• imperforate anus; anorectal malformation; anal atresia
• iridogoniodysgenesis anomaly
• 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)
• May-Hegglin anomaly
• mirror-image polydactyly of hands & feet without other anomalies
• muscle-eye-brain disease (MEB)
• oligomeganephronia
• omphalocele
• orofacial cleft
• osteoglophonic dysplasia/dwarfism
• ovarian dysgenesis
• Pelger-Huet anomaly
• Peters anomaly
• renal aplasia/agenesis
• renal tubular dysgenesis
• trigonocephaly
• vaginal septum
• visceral heterotaxy
• X-linked adrenal hypoplasia congenital

Introduction

• An anomaly established during intrauterine life, present at birth.

Etiology

• maternal age > 36 years
• paternal age ? [3]

• mutations of male gametes induced by biological or environmental factors

• maternal obesity [4]; maternal diabetes not obesity [5] Incidence: 3.1% (USA)

Management

• prevention

• healthy diet reduces risk [6]

More General Terms

• 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: [1]
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: [2]
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: [3]
5. Biggio JR Jr et al. Fetal anomalies in obese women: The contribution of diabetes. Obstet Gynecol 2010 Feb; 115:290. PMID: [4]
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 <PubMed> PMID: [5] <Internet> [6]
7. Genetics/Birth Defects [7]
8. Birth Defects [8]
9. National Guideline Clearinghouse
   - Evaluation of prenatally diagnosed structural congenital anomalies. American College of Obstetricians and Gynecologists ngc-guideline: [9]

congenital anomaly (birth defect)