How do I know if I have Léri-weill Dyschondrosteosis?

What signs or symptoms may make you suspect you may have Léri-weill Dyschondrosteosis. People who have experience in Léri-weill Dyschondrosteosis offer advice of what things may make you suspicious and which doctor you should go to to receive treatment

Léri-Weill Dyschondrosteosis (LWD) is a rare genetic disorder that affects bone growth and development. It primarily affects the bones of the forearm and lower leg, resulting in short stature and certain skeletal abnormalities. LWD is more commonly observed in females than males.

Diagnosing Léri-Weill Dyschondrosteosis

If you suspect you may have LWD, it is important to consult with a medical professional who can evaluate your symptoms and medical history. The diagnosis of LWD typically involves the following steps:

Physical Examination: A doctor will perform a thorough physical examination, looking for characteristic signs of LWD such as short stature, bowed forearms, and abnormal wrist development.

Family History: LWD is an inherited condition, so it is crucial to provide information about your family history, especially if other family members have been diagnosed with LWD or display similar symptoms.

X-rays: X-rays of the affected bones can reveal specific abnormalities associated with LWD. These may include shortening and bowing of the radius and ulna bones in the forearm, as well as abnormalities in the growth plates of the lower leg bones.

Genetic Testing: In some cases, genetic testing may be recommended to confirm the diagnosis of LWD. This involves analyzing the DNA for mutations or alterations in the SHOX gene, which is responsible for normal bone growth.

Seeking Medical Advice

If you suspect you may have Léri-Weill Dyschondrosteosis, it is important to consult with a healthcare professional who specializes in genetic disorders or orthopedics. They will be able to assess your symptoms, conduct the necessary tests, and provide an accurate diagnosis. Remember, only a qualified medical professional can diagnose LWD, so it is essential to seek their guidance.

Early diagnosis of LWD is beneficial as it allows for appropriate management and treatment options to be explored. Treatment may involve growth hormone therapy to improve height potential, orthopedic interventions to correct skeletal abnormalities, and ongoing monitoring to address any potential complications.

Diseasemaps

Well if you have reason to think you may have LWS you have to request genetic testing to be done. Now a days if you have chronic wrist issues and diagnosed with MD I think most health practitioners would order genetic testing. Back in the ‘80’s when I was dx’d with MD the orthopaedic surgeon did xrays on my mom and she had MD so we figured it was MD that was hereditary only to learn in 2006 that it is combined with a whole syndrome.

Posted Aug 9, 2020 by Merisa 1500