What are the major criteria for Marfan syndrome?
Disease description:
I feel that my child's physical appearance has been very abnormal recently. After consulting the hospital, I learned it might be Marfan syndrome. What are the main diagnostic criteria for Marfan syndrome?
Doctor's answer (1)
Dr. Xie Zixing
Patients may have delayed skeletal development or chest deformities, and may also be accompanied by cardiovascular and cerebrovascular diseases. Patients exhibit abnormal trunk skeletal morphology, typically tall and slender in stature, with a flat chest, narrow and elongated head, widely spaced eyes, long and slender fingers resembling spider-like digits (arachnodactyly), and clubbing of the fingers may be observed. Symptoms include blurred vision, refractive errors, iris coloboma, and constricted pupils. There is little subcutaneous fat and poor muscle development. Joint hypermobility or atrophic joint changes may occur.
