Hajdu Cheney Syndrome is a rare genetic disorder that is characterized by a variety of skeletal abnormalities and other associated features. It is named after the two doctors who first described the condition in medical literature.
The syndrome is typically present from birth and is caused by mutations in the NOTCH2 gene. This gene provides instructions for making a protein that is involved in cell signaling and development. The mutations in NOTCH2 disrupt the normal functioning of this protein, leading to the physical and developmental abnormalities observed in individuals with Hajdu Cheney Syndrome.
The skeletal abnormalities commonly seen in affected individuals include unusually flexible joints, abnormally shaped bones in the fingers and toes, a short stature, and spinal abnormalities such as scoliosis or kyphosis. Additionally, individuals with Hajdu Cheney Syndrome may have dental problems like missing or misshapen teeth, as well as thinning of the bones (osteoporosis) which makes them susceptible to fractures.
Other potential features of the syndrome include a distinctive facial appearance with a prominent forehead, widely spaced eyes, a small chin, and abnormalities in the structure of the skull. Some individuals may also present with hearing loss, heart defects, recurrent respiratory infections, and intellectual disabilities.
Hajdu Cheney Syndrome is inherited in an autosomal dominant pattern, meaning that a mutation in one copy of the NOTCH2 gene is sufficient to cause the disorder. However, most cases occur sporadically, with no family history of the condition.
Treatment for Hajdu Cheney Syndrome is symptomatic and aims to manage the various symptoms and complications associated with the disorder. Genetic counseling may be beneficial for affected individuals and their families to understand the inheritance pattern and risks associated with the condition.
