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Paediatrics is the medical specialisation that covers the developmental period in the life of a person who is in constant change, from birth to adolescence. An important group for paediatric pathology is related to genetic disorders, given the early onset of the expression.

Paediatric neurology covers problems with epilepsy, infantile cerebral paralysis, malformations of the central nervous system and learning disabilities, among the more important ones.

The phenotype assessment of a new-born or child can be the start of suspicions about a genetic pathology. Many clinical presentations caused by this are associated with neurodevelopmental disorders and subsequent learning disabilities.  Furthermore, some patients may have convulsions, which makes it even more complex to diagnose this diseases.

Additionally, assessing and detecting in a patient whether an activity that they developed as a child has stopped occurring is very important information for handling metabolic disorders.

Phenotype assessment and genetic evaluation allow us to decide on the most effective strategies for diagnosing patients, providing attention to patients with specific nervous system diseases in new-borns, babies, children and adolescents.

The rate of congenital heart disease is estimated at 8 to 10 in every 1,000 new-borns.

There are more than fifty different types of congenital heart disease:

      • Those that cause left-to-right shunts (blood passing from the systemic circulation to the pulmonary circulation), among which we have ventricular septal defects and arterial septal defects, patent ductus arteriosus and patent foramen ovale.
      • Those that obstruct blood flow, among which aortic coarctation stands out.
      • Heart diseases with cyanosis, in which abnormal blood flow goes from the pulmonary circulation to the systemic circulation, causing cyanosis. In this group we have Fallot tetralogy and the transposition of great arteries.

The correct assessment of the family’s medical history and background can be of great help for identifying a risk of syndromic or isolated heart disease.

The OMIM catalogue contains over 7,000 genetic disorders. Over 50% of them can be detected in children under the age of 18.

These diseases follow different autosomal dominant, autosomal recessive, and X-linked mendelian hereditary patterns.

These diseases can affect different systems, most of them are considered rare diseases and genetic diagnosis is necessary to define the prognosis and establish the risk of recurrence in the family.

If the medical specialisation that you’re looking for is not shown here, get in contact with us and we’ll give you the specific response necessary for your case.

Here at Sistemas Genómicos, we cover the widest range of specialisations and we are constantly updating them.