Genetic Disorders Expert Forum
Leir Weill
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Questions in the Genetics Forum are being answered by medical professionals and experts. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.

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Leir Weill

I got my blood work back. I was just diagnosed with having Leir Weill Dyschondrosteosis. I have been having alot of hip pain and daily feeling of giving out while walking, also elbow pain,  Can this be from my disorder? Also, what about problems with arthritis, can this be an early problem with this as well? I am only 44 and being currently tested for RA. Thanks.
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Leri-Weill dyschondrosteosis (LWD) is an inherited skeletal dysplasia characterized by short stature, mesomelia (a condition in which the forearms and lower legs are abnormally short), and Madelung wrist deformity. Although the disorder occurs in both sexes, it is typically more severe in females, possibly due to sex difference in estrogen levels. LWD is inherited in an autosomal dominant pattern, which means that an affected person has a 50% chance to have an affected child with each pregnancy.

The most common joint pain associated with LWD is wrist pain. We recommend that you meet with a medical geneticist, who is a physician that specializes in diagnosis, treatment, and management of genetic disorders. You can find a medical geneticist at the American College of Medical Genetics website. We wish you the best.
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