Prata-Liberal-Goncalves syndrome

Prata-Liberal-Goncalves syndrome, also known as acrodysplasia scoliosis or brachydactyly-scoliosis-carpal fusion syndrome, is a very rare genetic condition that affects bone development. People with this condition have differences in the size and shape of their fingers and toes, and some bones in the hands, feet, and spine may be abnormally formed. This condition is marked by features such as short and wide metacarpals, abnormal or absent metatarsals, broad big toes, fused wrist bones (carpal synostosis), and changes in the cervical spine including fused vertebrae. Some individuals also show signs of scoliosis (a sideways curvature of the spine) and spina bifida occulta. The medical literature has described these findings with no further updates since 1984.

People with this syndrome may experience brachydactyly (short fingers and toes) along with other finger and toe anomalies such as short or wide metacarpals, abnormal or even missing metatarsals, and broad halluces. They may also have carpal synostosis (fused wrist bones), fused cervical vertebrae, scoliosis, and spina bifida occulta.

Prata-Liberal-Goncalves syndrome is identified as a genetic dysostosis disorder, indicating that it is inherited and related to bone development. However, specific genetic causes or details about risk factors are not available.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.