A reçu un tourneur syndrome Erreur de diagnostic ?
Qu'est-ce que le syndrome de Turner?
Turner syndrome is a rare genetic syndrome that occurs in girls. Some girls with the syndrome have a missing X chromosome on their 23rd pair of chromosomes. This is usually caused by an error that occurs during the formation of the egg or sperm. In other individuals with the syndrome, it is caused by a missing part of the X chromosome in some of the cells of the X chromosome.
Common symptoms and features of the condition include a webbed neck, a short stature (height), feeding issues in infancy, skeletal problems, and other issues affecting the face, chest, skin, and chest.
Pourquoi est-il parfois mal diagnostiqué?
- As a multi-system disorder, the syndrome can affect multiple parts of the body, from the face to the skeleton to the cardiac system. The presence of many different Symptômes can make it difficult to pinpoint the ones specific to Turner syndrome and often lead to the diagnosis of other conditions or syndromes before identifying Turner syndrome.
- As a spectrum disorder, affected individuals present with varying degrees of symptoms ranging from mild to severe and every level in between. Individuals with milder symptoms may end up being diagnosed later than someone with more severe symptoms. Symptoms may also present at different ages depending on the girl affected.
- Tourneur syndrome ne fait pas partie des maladies les plus rares. En tant que maladie chromosomique affectant les filles, c'est l'une des plus courantes dans cette catégorie. Cependant, il s'agit d'une maladie rare, affectant seulement 1 sur 2,000 naissances vivantes environ. Les maladies rares dans leur ensemble sont souvent mal diagnostiquées en raison d'un manque de compréhension de la part des parents, des soignants et des professionnels de la santé.
Comment améliorer le diagnostic du syndrome de Turner?
Advances in test génétique prénatal are making misdiagnosis of Turner syndrome less common.
After birth, fast and accurate genetic analysis, followed by both Conseil Ginitique, and Test génétique can also ensure a correct and swift diagnosis of the condition and reduce Turner syndrome misdiagnosis rates.
Nous devons continuer à améliorer la sensibilisation aux maladies rares en général tout en augmentant et en étendant le soutien aux familles confrontées à un diagnostic de maladie rare. Plus nous en savons sur la génétique rare syndromes, y compris leurs causes et symptômes, plus nous pouvons réduire le taux d'erreurs de diagnostic et garantir que tous ceux qui en ont besoin obtiennent un diagnostic précis et en temps opportun.
