Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a very rare condition that begins shortly after birth. A person with SED-BDS will be shorter than most other people and will have short hands and feet. SED-BDS will cause someone to have a coarse voice. A coarse voice may also be described as hoarse or raspy.
A person with SED-BDS will have small, droopy eyelids. This can sometimes cause the person with SED-BDS to have trouble seeing. SED-BDS causes growth problems in the orbital rim. The orbital rim is the bone around the eye. The eyes will be slanted upwards. The top of the nose will be flat. SED-BDS will also cause a person’s eyebrows and eyelashes to be thick.
Some of the changes in the eyes and nose can be corrected with plastic surgery. The cause of SED-BDS is unknown. If you or a family member has been diagnosed with Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech, talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.