![]() ![]() ![]() In the remaining cases, there is no deleted material on chromosome 17 these cases are caused by mutations in the RAI1 gene. Other genes within the deleted segment may also play a role in variable features in the syndrome, but it is not fully understood how significant a role they play in the development of SMS. This deleted portion within chromosome 17p11.2 includes the RAI1 gene, which is believed to play a major role in the development of the disorder. Approximately 90% of cases are caused when a portion of chromosome is missing or deleted (monosomic). The specific symptoms present in each patients can vary dramatically from one individual to another. Common symptoms include distinctive facial features, skeletal malformations, varying degrees of intellectual disability, speech and motor delays, sleep disturbances, and self-injurious or attention-seeking behaviors. The disorder is characterized by a pattern of abnormalities that are present at birth (congenital) as well as behavioral and cognitive problems. Smith-Magenis syndrome (SMS) is a complex developmental disorder that affects multiple organ systems of the body. Stay Informed With NORD’s Email Newsletter.Find a Rare Disease Patient Organization.Rare Disease Cures Accelerator (RDCA-DAP).Find Clinical Trials & Research Studies.Launching Registries & Natural History Studies.A Podcast For The Rare Disease Community. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |