Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems.
What are the features of Stickler syndrome?
How prevalent is Stickler syndrome?
What other names do people use for Stickler syndrome?
How is Stickler syndrome diagnosed?
Find these answers and more in the “Stickler Syndrome” download.
Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward. Therefore, working with a medical geneticist (a physician with training in genetics) […]
SINDROME DI MARFAN La sindrome di Marfan causa frequentemente problemi alle ossa e alle articolazioni, che infatti sono spesso le prime caratteristiche che portano a sospettare la presenza della sindrome e a cercare una diagnosi. Queste caratteristiche (chiamate caratteristiche scheletriche) si manifestano quando le ossa crescono eccessivamente oppure i legamenti (il tessuto connettivo che tiene […]
Des vergetures (striae atrophicae) peuvent apparaître sur la peau de quiconque, en particulier à la suite d’une croissance rapide pendant l’adolescence, d’une grossesse ou d’une perte ou prise de poids importante. Les personnes atteintes du syndrome de Marfan sont sujettes à la formation de vergetures, souvent à un âge précoce et sans changement de poids. […]
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