Quels sont les symptômes du syndrome de Williams ?
Quels sont les symptômes du syndrome de Williams ?
Le syndrome de Williams (ou syndrome de Williams et Beuren) associe un retard psychomoteur, un profil comportemental particulier caractérisé notamment par une hyper sociabilité, des manifestations cardiovasculaires et quelquefois, chez le nourrisson, des perturbations du taux de calcium dans le sang (hypercalcémie).
What is Williams syndrome?
- El síndrome de Williams es una enfermedad genética que afecta muchas partes del cuerpo. Se caracteriza por discapacidad intelectual leve a moderada, personalidad con características únicas, rostro distintivo, problemas del corazón, y vasos sanguíneos (cardiovascular). [1]
What is collapse section Williams syndrome (CSW)?
- Collapse Section Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Can facial features be used to diagnose Williams syndrome?
- Some diagnostic studies suggest that reliance on facial features to identify Williams syndrome may cause a misdiagnosis of the condition. Among the more reliable features suggestive of Williams are congenital heart disease, periorbital fullness ("puffy" eyes), and the presence of a long smooth philtrum.
How many genes are deleted in Williams syndrome?
- The deleted region includes 26 to 28 genes, and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome.
