This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
STAR syndrome is a very rare syndrome that affects many parts of the body. “STAR” is an acronym for the primary signs and symptoms of the syndrome:
However, some people with STAR syndrome have had a variety of additional features affecting many parts of the body. STAR syndrome may be caused by a mutation or deletion affecting the FAM58A gene, also called the CCNQ gene. In some cases, other features may be due to larger deletions that involve other genes besides the FAM58A gene. Additional features that have been reported include other skeletal abnormalities, hearing loss, epilepsy, ocular abnormalities, syringomyelia, tethered spinal cord, and various other birth defects.
Inheritance of STAR syndrome is X-linked dominant. The syndrome is thought to be lethal in male embryos; only females with STAR syndrome have been reported. Treatment depends on the specific features and severity in each person.
For more information, visit GARD.