Fibulo-ulnar hypoplasia-renal anomalies syndrome

Fibulo-ulnar hypoplasia-renal anomalies syndrome is a rare condition that affects bone and kidney development. It is marked by abnormal development of the fibula and ulna, with children experiencing underdeveloped or missing bones, along with ear and facial anomalies such as a small jaw. Other features include symmetrical shortening of long bones and oligosyndactyly, which is a difference in the number or shape of fingers and toes. This condition has been described in two siblings born to nonconsanguineous parents and is inherited in an autosomal recessive pattern. Unfortunately, the syndrome is lethal at birth due to respiratory failure. Additional findings reported include congenital heart defects and kidney problems, such as cystic or hypoplastic kidneys.

People with this condition can develop ear and facial anomalies (including a small jaw), symmetrical shortening of long bones, missing fibula, an underdeveloped ulna, and oligosyndactyly. They may also have congenital heart defects and kidney abnormalities, such as cystic or small kidneys.

Fibulo-ulnar hypoplasia-renal anomalies syndrome is inherited in an autosomal recessive pattern. This means that both parents carry a copy of a genetic change, even though a specific gene has not been identified. The condition has been observed in siblings from nonconsanguineous parents, which supports this pattern of inheritance.

Information about treatment is currently limited for this condition.

The outlook for this syndrome is poor because it is typically lethal at birth due to respiratory failure. Long-term quality of life information is not available due to the severity of the condition at birth.

Information about current research is currently limited for this condition.