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Genetic syndromes

Genetic syndromes

Genetic syndromes

Genetic syndromes are any genetic alteration that can cause alterations in the developmental process of the nervous system and that can be reflected in the child’s psychomotor and cognitive development. The physical, motor, cognitive and behavioural effects that may occur depend on the genetic syndrome, genetic expression and other environmental factors. They can range from children with mild cognitive disorders to profiles with serious motor impairment and intellectual disability.

 

CLASSIFICATION OF GENETIC SYNDROMES

Genetic syndromes form a heterogeneous group of conditions with a genetic component in their origin, and can be classified into:

  • Chromosomal disorders: Genetic syndromes caused by structural or numerical alterations of chromosomes. These are the most studied and known.
  • Monogenic defects: Genetic syndromes caused by alterations in a single gene. They are the most numerous and heterogeneous.
  • Multifactorial disorders: Genetic syndromes in which there are alterations in more than one gene and that are affected by environmental aspects.

 

THE MOST COMMON GENETIC SYNDROMES

  • Down syndrome (Trisomy 21)
  • Turner syndrome
  • Fragile X syndrome
  • Williams syndrome
  • Angelman syndrome
  • Prader-Willi syndrome
  • Edwards syndrome
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