adducted thumbs-arthrogryposis syndrome, Christian type

Adducted thumbs-arthrogryposis syndrome, Christian type is a very rare condition that affects multiple parts of the body. It is mainly known as a type of arthrogryposis where people are born with joint contractures, often making movement difficult. Other features include a cleft palate, a smaller than normal head (microcephaly), and early closure of skull sutures (craniostenosis), among other complications. The condition also includes distinctive facial features such as a stiff, 'myopathic' face, low-set and unusually rotated ears, and a high arched palate. People with the condition may also have difficulties with swallowing, muscle weakness, seizures, and abnormal muscle tone. This syndrome is inherited in an autosomal recessive manner, meaning that a child would need to receive a copy of the changed gene from both parents to be affected.

People with this condition typically show a range of symptoms including joint contractures such as limited elbow extension, flexed and adducted thumbs, camptodactyly (bent fingers), and clubfeet. Other symptoms described include a congenital cleft palate, a smaller head size (microcephaly), craniosynostosis (premature fusion of skull bones), and various facial differences such as a stiff face, unusual eye positioning, and low-set ears. Additional issues may include swallowing difficulties, increased nasal and throat secretions, muscle weakness, seizures, and poor reflexes.

This condition is inherited in an autosomal recessive pattern, meaning that a person needs to inherit a copy of the gene change from both parents to develop the syndrome. Information about the exact genetic mutation or risk factors is not provided in the available sources.

Information about treatment options and management approaches is currently limited for this condition.

The syndrome often leads to early death, indicating that the outlook for people with this condition can be very serious. The overall quality of life is greatly affected by the many complications associated with the condition.

No new cases of adducted thumbs-arthrogryposis, Christian type have been described since 1983. This suggests that research in understanding and treating the condition is very limited, and there is little recent information available.