Dysmorphic syndrome is a set of physical characteristics that are not frequently found in people of the same age or ethnic group. Its causes can be genetic, environmental or due to drugs and drugs during pregnancy.
Dra.. Areli López Uriarte
The term dysmorphic syndrome is used to describe a child or adult whose physical characteristics, mainly facial, are not frequently found in people of the same age or with the same ethnic background. Some features are abnormal in any circumstance, for example, the premature closure of cranial sutures, called craniosynostosis. These data may be key in certain disorders, since they are not normal, and help the geneticist to begin a diagnostic approach . In contrast, other conditions can be considered variants of normality, and when several minor alterations are familial or not, it is advisable to seek genetic consultation to rule out a syndromic problem, that is, that it is part of a syndrome.
The causes of the dysmorphic syndrome are multiple, and may have a genetic origin (chromosomal alterations, gene alterations), multifactorial (genes + environment) or by the effect of a teratogen (drugs, drugs or infections during pregnancy).
The geneticist makes a thorough questioning about the hereditary family history, constructing the pedigree, investigating the perinatal, personal pathological and non-pathological personalities of the patient, performing a thorough physical exploration to obtain necessary information that leads him to integrate a clinical diagnosis. You may even be required to take some medical photographs. Subsequently, with the help of some laboratory and cabinet studies as appropriate to each case and supported in cytogenetic resources, molecular biology, biochemical genetics, etc.. an etiological diagnosis is reached in most cases.
Prevention of disease
Although the dysmorphic syndrome is considered congenital (that is born with it) is not necessarily genetic; we mention that there are other causes that are clearly environmental, such as some infectious diseases during pregnancy or the intake of some medication during pregnancy; these causes can be eliminated for a next pregnancy in which the reappearance of this disorder is prevented. However, of the dysmorphic syndromes with a genetic or chromosomal cause, it is important to define whether it is the first case in the family or if it corresponds to an inherited pattern, namely, autosomal dominant or recessive, and forms attached to the X chromosome. In these cases as such it is not possible to "prevent" but after genetic counseling to the family for each particular case there are some specific measures for the risks of recurrence (possibility that the disorder is repeated in another child).