Al-Gazali syndrome

Al-Gazali syndrome is a rare genetic condition that is inherited in an autosomal recessive pattern. It is characterized by joint contractures, skeletal abnormalities, and problems with the front part of the eye. These eye anomalies can affect vision and may be found alongside structural issues in other parts of the body. The syndrome is often associated with early lethality, meaning that affected individuals may not survive beyond infancy. The combination of bone, joint, and eye issues defines this condition and distinguishes it from other genetic disorders.

People with Al-Gazali syndrome commonly experience joint contractures and skeletal abnormalities, which can affect mobility. They may also have anomalies in the anterior segment of the eye, which can lead to vision problems. Other associated symptoms, as suggested by alternative names like eye defects, arachnodactyly, and cardiopathy, may include heart issues and long, slender fingers.

This condition is genetic and follows an autosomal recessive inheritance pattern, which means that two copies of the mutated gene, one from each parent, are needed for the syndrome to occur. The gene involved, B3GALT6, is known to play a role in this rare condition.

Information about treatment is currently limited for this condition.

Al-Gazali syndrome is associated with early lethality, which indicates a reduced life expectancy. There is limited information about long-term outcomes and quality of life for those who are affected by this condition.

Information about current research and future directions is currently limited for this condition.