Síndrome Williams: Una enfermedad rara con sintomatología contradictoria

Translated title of the contribution: Williams syndrome: A rare disease with contradictory symptomatology

Aníbal Puente Ferreras, María Paz Fernández Lozano, Jesús María Alvarado Izquierdo, Virginia Jiménez Rodríguez

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Williams syndrome (WS) is considered one of the rare or uncommon diseases. It has an incidence of a case each 20.000 live births. It is a genetic disorder, located on chromosome 7 (band 7q11.23), in 99% of cases. This genetic alteration affects the development and operation of the central nervous system. Does not exist cure for the disease but the social, emotional and cognitive symptoms can smooth. WS occurs almost exclusively in girls and exceptionally in children. The most striking feature of the WS is the discrepancy between the general intellectual functioning (mild or moderate delay) accompanied by outstanding linguistic skills, much higher than expected for their chronology and mental age. High number of cases shows cardiac and endocrine problems, sleep disturbances, selective hyperacusis and spatial cognition disorders.

Translated title of the contributionWilliams syndrome: A rare disease with contradictory symptomatology
Original languageSpanish
Pages (from-to)217-228
Number of pages12
JournalRevista Latinoamericana de Psicologia
Issue number2
Publication statusPublished - 2011

ASJC Scopus subject areas

  • General Psychology


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