Spondyloepiphyseal dysplasia tarda X-linked
Other Names for this Disease
- DES embryofetopathy
- DES syndrome
- Diethylstilbestrol embryofetopathy
- Diethylstilbestrol syndrome
- Distilbene embryofetopathy
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. However, mild symptoms of osteoarthritis have been reported in female carriers of X-linked spondyloepiphyseal dysplasia tarda.
Last updated: 5/10/2011
- X-linked spondyloepiphyseal dysplasia tarda. Genetics Home Reference (GHR). June 2008; http://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda. Accessed 5/10/2011.