Malformation Syndromes in India

Congenital malformations are present at birth. Major malformations may need special care soon after birth or during the neonatal period. However, many multiple malformation syndromes associated with subtle dysmorphism and minor malformations may not become clinically relevant till later part of infancy or childhood when associated with developmental delay or mental retardation. Hence, incidence of multiple malformation syndromes obtained from examination of the newborn may be an underestimate. The studies on Indian population by Kolah et al (1967) and Kulkarni & Kurian (1990) provide a prevalence of congenital malformation syndromes as 0.34 per 1000 births and 2.4 per 1000 births respectively. The latter study (Kulkarni and Kurian, 1990) covered the South Indian population with very high rate of consanguinity. The study by Kolah et al (1967) reflects the period when the information about syndromes and diagnostic facilities were scarce. The authors observed that that recording of multiple malformations was inadequate as in most of the cases only the major malformation was recorded and the associated minor defects were not mentioned.