Gordon syndrome

Gordon syndrome is an extremely rare condition that involves multiple congenital malformations. It is mainly characterized by contractures of the hands and feet. These contractures can vary in severity and may include conditions such as camptodactyly (permanent bending of one or more fingers) and clubfoot. In some people with this condition, a cleft palate is also seen, although it occurs less frequently. People with Gordon syndrome usually have normal intelligence. However, some may also have additional features including short stature, a curved spine (kyphoscoliosis), droopy eyelids (ptosis), a small lower jaw (micrognathia), and undescended testicles (cryptorchidism). The syndrome shows overlap with conditions like Marden-Walker syndrome and certain types of arthrogryposis, which suggests that these may be variable expressions of the same underlying condition.

Common signs of Gordon syndrome include congenital contractures of the hands and feet. This may present as camptodactyly, where the fingers remain bent, and clubfoot. Less often, a cleft palate is seen. Some individuals may also experience short stature, kyphoscoliosis, ptosis, micrognathia, or cryptorchidism.

Gordon syndrome has been linked to changes in a gene called PIEZO2. This gene is known to be involved in how body tissues respond to physical forces. The condition appears to be inherited in a way that affects gene expression, though the precise causes and risk factors need further clarification.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.