Skip to main content
SpringerLink
Log in

Congenital Developmental Anomalies

  • Chapter
Genetic Disorders of the Indian Subcontinent

  • 135 Accesses

Abstract

Developmental abnormalities presenting as unusual single or multiple anatomic alterations are not restricted to any ethnic human population. Every year about 3% of all children born in any hospital or in any country will have a significant congenital abnormality. It may be more than of cosmetic concern and which, if uncorrected, will interfere with normal functioning (Aase, 1990). Such anomalies occur in only a small fraction of all new born. However, these collectively attribute to about 30% of all neonatal and infant deaths, and children born with birth defects make up about 30% of all admissions in paediatric hospitals. Furthermore, these children present with a range of problems requiring medical support from various specialists. These problems usually start from an early life and may require chronic care for decades. The burdens imposed on these children and their families, and society at large, may be enormous. The great majority of birth defects are neither detectable by prenatal diagnosis nor preventable. Thus the impact of these problems has not decreased despite advances in medicine.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Similar content being viewed by others

References

  • Agarwal SS, Singh U, Singh PS, Singh SS, Das V, Sharma A, Mehra A, Mehra P,Chandravati, Malik GK, Misra PK (1991): Prevalence and spectrum of congenital malformations in a prospective study at a teaching hospital. Indian J Med Res 94: 413 – 419.

    PubMed  CAS  Google Scholar 

  • Aase JM (1990): “Diagnostic Dysmorphology” New York; Plenum Medical Book Co., pp 7 – 8.

    Google Scholar 

  • Al-Awadi S.A, Teebi, AS, Farag TI, Naguib KM, El-Khalifa MY (1985): Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. J Med Genet 22: 36 – 38

    Article  PubMed  CAS  Google Scholar 

  • Badaruddoza, Afzal M, Akhtaruzzaman (1994): Inbreeding and congenital heart diseases in north Indian population. Clin Genet 45 (6): 288 – 91

    CAS  Google Scholar 

  • Baird PA (1983): Neural tube defects in the Sikhs Am J Med Genet 16 (1): 49 – 56

    Article  PubMed  CAS  Google Scholar 

  • Beales Pl, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR (2001): Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.,Am J Hum Genet. 68 (3): 606 – 16.

    Google Scholar 

  • Carter CO(1976)Genetics of common single malformations. Br Med Bull 32:21-26

    PubMed  CAS  Google Scholar 

  • Chambers K, Popkin J, Arnold W, Irwin B, Hall JG (1994): Neural tube defects in British Columbia. Lancet. 343 (8895): 489 – 90.

    Article  Google Scholar 

  • Chung CS, Ching GHS, Morton NE (1974): A genetic study of cleft lip and palate in Hawaii.II Complex segregation analysis and genetic risks. Am J Hum Genet 26: 177 – 188.

    PubMed  CAS  Google Scholar 

  • Crow YJ, Jackson AP, Roberts E, van Beusekom E, Barth P, Corry P, Ferrie CD, Hamel BCJ, Jayatunga R., Karbani G, Kalmanchey R., Kelemen A et al. (2000) Aicardi-Goutieres syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am. J. Hum. Genet. 67: 213 – 221.

    Article  PubMed  CAS  Google Scholar 

  • Erickson JD (1976): Racial variations in the incidence of congenital malformations. Ann Hum Genet 39: 315.

    Article  PubMed  CAS  Google Scholar 

  • Farag TI, Teebi AS, Al-Awadi SA. (1986): Nonsyndromal anencephaly: possible autosomal recessive variant. Am J Med Genet 24: 461 – 464.

    Article  PubMed  CAS  Google Scholar 

  • Farag TI, Al-Awadi SA, Yassin SY. (1989): Anencephaly: a vanishing problem in Bedouins. J Med Genet 26: 538 – 539.

    Article  PubMed  CAS  Google Scholar 

  • Gladstein K, Lange K, Spence MA (1978): A ggodness-of-fit test for the polygenic threshold model: application to pyloric stenosis. Am J Med Genet 2: 7 – 13.

    Article  Google Scholar 

  • Gorlin RJ, Cohen MM Jr., Hennekam RCM (2001): Syndromes of the Head and Neck ( Fourth Edition ), Oxford University Press, Oxford.

    Google Scholar 

  • Hall JG, Friedman JM, Kenna BA, Popkin J, Jawanda M, Arnold W (1988): Clinical, genetic, and epidemiological factors in neural tube defects. Am J Hum Genet Dec; 43 (6): 827 – 37.

    CAS  Google Scholar 

  • Harper PS (2000): Practical Genetic Counselling. Arnold, London.

    Google Scholar 

  • Hu DN, Li JH, Chen HY, Chang HS, Wu BX, Wang DZ, Liu XG (1982): Genetics of cleft palate in China. Am J Hum Genet 34: 999 – 1002.

    PubMed  CAS  Google Scholar 

  • Hurst JA, Markiewicz M., Kumar D, Brett EM (1988) Unknown syndrome: Hirschsprungs disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. J. Med. Genet. 25: 494 – 497.

    Article  PubMed  CAS  Google Scholar 

  • ICMR (2000): Multicentric study of efficacy of peri conceptional folic acid containing vitamin supplementation in prevention of open neural tube defects from India. Indian J Med Res. 112: 206 – 11.

    Google Scholar 

  • Jablonski S (1991): Syndrome: Le Mot de Jour. Am J Med Genet 39: 342 – 346.

    Article  PubMed  CAS  Google Scholar 

  • Jackson AP, McHale DP, Campbell DA, Jafri H., Rashid Y, Mannan J, Karbani G, Corry P, Levene M I, Mueller RF, Markham AF, Lench NJ et al. (1998) Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63: 541 – 546.

    Article  PubMed  CAS  Google Scholar 

  • Jain SK (1994): A study of 200 cases of congenital limb deficiencies. Prosthet Orthot Int 18 (3): 174 – 9.

    PubMed  CAS  Google Scholar 

  • Jones KL (1997): “Smith’s Recognizable Patterns of Human Malformation.” 5th Ed. Philadelphia: WB Saunders Co. pp 1 – 5.

    Google Scholar 

  • Keena BA, Jawanda M, Hall JG (1987): Cultural influences and neural tube defects in the East Indian Sikh population of British Columbia. Birth Defects Orig Artic Ser 23 (6): 245 – 8.

    CAS  Google Scholar 

  • Khoury MJ (1989): Epdemiology of birth defects. Epidemiol Rev 11: 244 – 248.

    PubMed  CAS  Google Scholar 

  • Khoury MJ, Moore CA and Evans JA(1998): On the use of the term “syndrome” in clinical genetics and birth defects epidemiology. Am J Med Genet 49: 26 – 28.

    Google Scholar 

  • Kulkarni MJ, Jose S (1997): Folic acid prevents neural tube defects in high prevalence area.Indian Pediatr. 1997 Jun; 34 (6): 561 – 2.

    CAS  Google Scholar 

  • Kulkarni ML, Mathew MA, Reddy V (1989) The range of neural tube defects in southern India. Arch Dis Child 64 (2): 201 – 4.

    Article  PubMed  CAS  Google Scholar 

  • Kumar D, Duggan MB, Mueller R F, Karbani G (1997) Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild. Am J Med Genet 70: 107 – 113.

    Article  PubMed  CAS  Google Scholar 

  • Kumar D, Primahak, R, Kumar A (1998): Variable phenotype in Kaufman-McKusick syndrome: report of an inbred Muslim family and review of the literature. Clin Dysmorphol. 7 (3): 163 – 70.

    Article  PubMed  CAS  Google Scholar 

  • Kumar, D.; Rittey, C.; Cameron, A. H.; Variend, S. (1998) Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi andGoutieres. Am J Med Genet 75: 508 – 515.

    Article  PubMed  CAS  Google Scholar 

  • Kumar D, Moss G, Primhak R, Coombs R. (1997): Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors. J Med Genet 34: 541 – 545.

    Article  PubMed  CAS  Google Scholar 

  • Kumar V, Singh AJ, Marwaha RK (1994) An epidemiological study of congenital malformations in rural children. Indian Pediatr 31 (8): 909 – 14.

    PubMed  CAS  Google Scholar 

  • Lawrence KM, James, N, Miller et al (1980): Increased risk of recurrence of pregnancies complicated by fetal neural tube defects in mothers receiving poor diets, and possible benefit of dietary counselling. Br. Med. J 281: 1592.

    Article  Google Scholar 

  • Lawrence KM, Campbell H, James NE (1983): The role of improvement in the maternal diet and periconceptional folic acid supplementation in the prevention of neural tube defects. In:Prevention of Spina bifida and Other Neural Tube Defects. J Dobbing, ed. Academic Press, London., p85.

    Google Scholar 

  • Leppig KA, Werler MM, Cann CI (1987) Predictive value of minor anomalies.I. Association with major malformations. J Pediatr 110: 531.

    Article  PubMed  CAS  Google Scholar 

  • Lurie IW, Prytkov AN, Melders LV(1984): Meckel syndrome in different populations. Am J Med Genet 18: 661 – 669.

    Google Scholar 

  • Marazita ML, Spence MA, Melnick M (1984): Genetic analysis of cleft lip with or without cleft palate in danish kindreds. Am J Med Genet 19: 9 – 18.

    Article  PubMed  CAS  Google Scholar 

  • Marazita ML, Melnick M, Spence MA, Hu Din (1989): Family study of cleft lip and cleft palate in Shanghai, China. Am J Hum Genet 45: A243.

    Google Scholar 

  • Marden PM, Smith DW, McDonald MJ (1984): Congenital anomalies in the newborn infant. J Pediatr 64: 357.

    Google Scholar 

  • Master-Notani P, Kolah PJ, Sanghvi LD (1968): Congenital malformations in the newborn in Bombay. Part I. Acta Genet 18: 97.

    PubMed  CAS  Google Scholar 

  • MRC (1991): MRC Vitamin Study Research Group: Prevention of neural tube defects: results of Medical Research Council study. Lancet 338: 131.

    Article  Google Scholar 

  • Mehes K (1983): Minor malformations in the neonate. Akademiao Kiado, Budapest.

    Google Scholar 

  • Mehta, L.; Trounce, J. Q.; Moore, J. R.; Young, I. D (1986): Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J. Med. Genet. 23: 157 – 160.

    Article  PubMed  CAS  Google Scholar 

  • Melnick ML, Bixler D, Gogh-Anderson P, Conneally PM (1980): Cleft lip-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet 6: 83 – 97.

    Article  PubMed  CAS  Google Scholar 

  • Melnick M, Jaskoll T, Slavkin HC (1981): Corticosteroid-induced cleft lip with in mice: A teratogenic, topographic, and histologic investigation. Am J Med Genet 10: 333 – 350.

    Article  PubMed  CAS  Google Scholar 

  • Melnick M (1992): Cleft lip (+/- cleft palate) etiology: A search for solutions. Am J Med Genet 42: 10 – 14.

    Article  PubMed  CAS  Google Scholar 

  • Melnick M, Marazita ML, Hu DN (1986): Genetic analysis of cleft lip with or without cleft palate in Chinese kindreds. Am J Med Genet Supple 2: 183 – 190.

    PubMed  CAS  Google Scholar 

  • Mishra PC, Baveja R (1989): Congenital malformations in the newborn-a prospective study. Indian Pediatr 26 (1): 32 – 35.

    PubMed  CAS  Google Scholar 

  • Myrianthopoulas NC, Chung CS (1974) Congenital malformations in singletons: epidemiologic survey. BDOAS X (11): 1.

    Google Scholar 

  • McKusick VA (2003): Online Mendelian Inheritance in Man [OMIM], National centre for biotechnology information, National Institutes of Health, USA.

    Google Scholar 

  • Nemana LJ, Marazita ML, Melnick M (1992): A genetic analysis of cleft lip and with or without cleft palate in Madras, India. Am J Med Genet 42: 5 – 10.

    Article  CAS  Google Scholar 

  • London dysmorphology database, Oxford medical databases (OMD) (2000), Oxford University Press, Oxford.

    Google Scholar 

  • Paavola P, Salonen R, Weissenbach J, Peltonen L. (1995): The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24 (Letter). NatureGenetics 11: 213 – 215.

    Article  PubMed  CAS  Google Scholar 

  • Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter RM, Peltonen L. (1997): Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 101: 88 – 93.

    Article  PubMed  CAS  Google Scholar 

  • Raas-Rothschild, A.; Goodman, R. M.; Meyer, S.; Katznelson, M. B.-M.; Winter, S. T.; Gross, E.; Tamarkin, M.; Ben-Ami, T.; Nebel, L.; Mashiach, S. (1988): Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome. J Med Genet 25: 687 – 697.

    Article  PubMed  CAS  Google Scholar 

  • Ranadive NU, Kulkarni N, Gadkari K, Deodhar KP (1995): Autopsy study of infant kidneys in cases of urinary tract anomalies. Indain J Pathol Microbiol 38 (3): 252.

    Google Scholar 

  • Ray AK, Leigh Field L, Marazita ML (1993): Nonsyndromic cleft lip with or without palate in West Bengal, India: Evidence for an autosomal major locus. Am J Hum Genet 52: 1006 – 1011.

    PubMed  CAS  Google Scholar 

  • Roume J, Ma HW, Le Merrer M, Cormier-Daire V, Girlich D, Genim E, Munnich A. (1997): Genetic heterogeneity of Meckel syndrome. J Med Genet 34: 1003 – 1007.

    Article  PubMed  CAS  Google Scholar 

  • Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie MT, Razavi-Encha F, Fallet-Bianco C, Buenerad A, Clerget-Darpoux F, Munnich A, Le Merrer M(1998): A gene for Meckel syndrome maps to chromosome 1 1q13. Am J Hum Genet 1998; 63: 1095 – 1101.

    Article  PubMed  CAS  Google Scholar 

  • Seller MJ (1981):. Phenotypic variation in Meckel syndrome. Clin Genet 20:99-108.

    Google Scholar 

  • Sharma AK, Upreti M, Kamboj M, Mehra P, Das K, Misra A, Dhasmana S, Agarwal SS. (1994): Incidence of neural tube defects of Lucknow over a 10 year period from 1982-1991. Indian J Med Res 99: 223 – 6.

    PubMed  CAS  Google Scholar 

  • Slavotinek, A. M.; Searby, C.; Al-Gazali, L.; Hennekam, R. C. M.; Schrander-Stumpel, C.; Orcana-Losa, M.; Pardo-Reoyo, S.; Cantani, A.; Kumar, D.; Capellini, Q.; Neri, G.; Zackai, E.; Biesecker, L. G. (2002) Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 110: 561 – 567

    Article  PubMed  CAS  Google Scholar 

  • Stevenson, RE and Hall, JG: In ‘Human Malformations and Related Anomalies’ Eds. R.E.Stevenson and J.G.Hall, Oxford University Press, Oxford & New York, 1993.

    Google Scholar 

  • Sujatha M, Kumar CK, Murty JS (1989): Segregation frequency in microcephaly. Hum Genet 81 (4): 388 – 90.

    Article  PubMed  CAS  Google Scholar 

  • Swain S, Agarwal A, Bhatia BD (1994): Congenital malformations at birth. Indian Pediatr 31 (10): 1187 – 91.

    PubMed  CAS  Google Scholar 

  • Teebi AS, Al Saleh QA, Odeh H(1992): Meckel syndrome and neural tube defects in Kuwait J Med Genet 29: 140 – 144.

    Google Scholar 

  • Terry PB, Mathew PM, Condie RG, Bissenden JG (1983): Ethnic difference in the distribution of congenital malformations. Postgrad Med J 59 (696): 657 – 8.

    Article  PubMed  CAS  Google Scholar 

  • Thakur JS, Negi PC, Ahluwalia SK, Sharma R, Bhardwaj R (1995): Congenital heart disease among school children in Shimla hills. Indian Heart J 47 (3): 232 – 5.

    PubMed  CAS  Google Scholar 

  • Wakhlu AK, Wakhlu A, Pandey A, Agarwal R, Tandon RK, Kureel SN (1996): Congenital short colon. World J Surg 20 (1): 107 – 14.

    Article  PubMed  CAS  Google Scholar 

  • Woods, C. G. (1998): Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 63: 541 – 546.

    Article  PubMed  Google Scholar 

  • Young ID, Rickett AB, Clarke M (1985): High incidence of Meckel syndrome in Gujrati Indians. J Med Genet 22: 301 – 304.

    Article  PubMed  CAS  Google Scholar 

Download references

Authors
  1. Dhavendra Kumar
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Clinical Genetics, The Churchill Hospital, Oxford Radcliffe Hospitals NHS Trust, Headington, Oxford, UK

    Dhavendra Kumar

Rights and permissions

Reprints and permissions

Copyright information

© 2004 Springer Science+Business Media Dordrecht

About this chapter

Cite this chapter

Kumar, D. (2004). Congenital Developmental Anomalies. In: Kumar, D. (eds) Genetic Disorders of the Indian Subcontinent. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-2231-9_7

Download citation

  • DOI: https://doi.org/10.1007/978-1-4020-2231-9_7

  • Publisher Name: Springer, Dordrecht

  • Print ISBN: 978-90-481-6262-8

  • Online ISBN: 978-1-4020-2231-9

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation