Schaap Taylor Baraitser syndrome also known as Cataract-deafness-hypogonadism syndrome, is a very rare genetic disorder that has only been documented in three brothers to date. The symptoms of this condition begin very early and vary from person to person, but typically include mild intellectual disability, congenital cataracts (which are a clouding of the eye, causing partial to full blindness), sensorineural problems, hypogonadism (diminished gonad activity), hypertrichosis (excessive body hair growth), and short stature. Because gonads are the part of the body that make sex cells, and individuals with this syndrome do not have gonads that function correctly, people with this syndrome may have difficulty reproducing. Additionally, patients with this syndrome may have hands and feet that appear to be broader than usual and faces that have more rough skin. This disorder normally begins at a very young age or even before the child is born.
The gene mutation that causes this condition is currently unknown but the condition is believed to be passed in an autosomal recessive manner. This means that an affected person must have gotten a mutation from both their mom and dad to get the disorder. Treatment options are based on symptoms present. If you or a family member has been diagnosed with Schaap Taylor Baraitser syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Jan 27, 2018