Síndromes muy poco frecuentes

Abstract

Many of the malformation syndromes are as very few frequent, that are rarely known by most of the paediatricians and geneticists or our population. This is an important difficulty to establish such diagnoses in affected patients that can remain undiagnosed for a long time, or even never been diagnosed. Moreover, the advances in the field of prenatal diagnosis and the possibility of interrupting the gestation if there are anomalies in the fetus, make such syndromes even be less frequent. For these reasons the experience of the young paediatricians and geneticists will become more and more limited. It is noteworthy that the ECEMC Registry is gathering data on infants with congenital defects since 26 years ago. The database includes more than 32,000 malformed infants, many of them with photos, X-ray, and others images. Besides, in the ECEMC laboratory, the karyotype with high resolution band (850 bands) and FISH techniques, is currently performed. Consequently, we have these studies for most of the multiply malformed infants. Systematically, the ECEMC group make a detailed clinical study on each malformed baby in order to identify syndromes and causes. Furthermore, the group is expert in evaluation of potential human teratogens. The group is participating internationally in the clarification and development of the concepts in dysmorphology, and describing syndromes. Taking all these points into considerations, we think that will be very useful to include a new section in the "Boletín del ECEMC", to present syndromes of extremely low frequency in our country. In this new section, we are presenting six very rare syndromes that, in our data, have a frequency of 1/1,887,538 newborn infants. However, some of then may be under-recognized due to their great variability in clinical expression.