Steinfeld syndrome is a rare disorder with a variety of symptoms. A person with Steinfeld syndrome will have holoprosencephaly. Holoprosencephaly is where a part of the brain known as the forebrain does not develop fully. This causes someone with Steinfeld syndrome to have eye, nose, and upper lip deformities. Steinfeld syndrome may cause microphthalmia, which is when the eyes are too small. People with Steinfeld syndrome may not have a nose and they may have ear deformities and hearing loss. People with this syndrome may also have a cleft lip or cleft palate. A cleft lip is a deformity of the upper lip. A cleft palate is a hole in the roof of the mouth. A person with Steinfeld syndrome will not have thumbs, and he/she may have a deformed spine.
People with Steinfeld syndrome will have a malformed heart and kidneys. The heart pumps blood through the body. The kidneys remove waste from the blood by creating urine. Malformed organs can cause the organ to not work properly which can lead to many different health problems. These symptoms vary and can sometimes lead to death before a baby with Steinfeld syndrome is born, or shortly after birth.
Steinfeld syndrome is passed down from parents to their children through genes. Genes are sections of DNA that act as instruction manuals for proper growth and development. A person receives genes from both parents. Steinfeld syndrome is most likely inherited in an autosomal dominant pattern. This means that one mutation (genetic change in a gene) from one parent is inherited by a child in order to cause the disorder.
The exact gene that causes the symptoms of Steinfeld syndrome is unknown. If you or a family member has been diagnosed with Steinfeld syndrome talk to your doctor about the most current treatment options. Support groups are also good sources of support and information.