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Dysmorphic syndrome: uncommon physical features

Written by: Dra. Graciela Arelí López Uriarte
Published: | Updated: 10/12/2019
Edited by: Top Doctors®

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

dysmorphism 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.

Multiple causes

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).

Complex diagnosis

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).

*Translated with Google translator. We apologize for any imperfection
Dra. Graciela Arelí López Uriarte

By Dra. Graciela Arelí López Uriarte

Dr. Lopez Uriarte is certified by the Mexican Council of Human Prenatal Genetic Diagnosis and expert diagnosis and management of Inborn Errors of Metabolism geneticist.

He concluded the degree of Doctor surgeon and obstetrician at the Faculty of Medicine of the Universidad Juarez del Estado de Durango, then he specialized in Medical Genetics at the UANL and continued his preparation to conduct training of neonatal screening in the Mayo Clinic in Rochester Minnesota , in United States. He also attended Diagnosis and Treatment of Inborn Errors of Metabolism at the University of Chile.

It has subspecialty in Perinatal Genetics, from UNAM, a doctor attached to the Department of Genetics at the UANL and Coordinator of Undergraduate Genetics from the same institution. He is also Professor of undergraduate Genetics and Genomic Medicine and Masters of Medical Genetics, Reproductive Biology and Perinatology, Faculty of Medicine of the UANL.

He is a member of the Mexican Association of Human Genetics.

*Translated with Google translator. We apologize for any imperfection