Which are the symptoms of Hajdu-Cheney Syndrome?

Hajdu-Cheney Syndrome (HCS) is a rare genetic disorder that affects various systems of the body. It is characterized by a wide range of symptoms, which can vary in severity from person to person. HCS is caused by mutations in the NOTCH2 gene, which plays a crucial role in the development and maintenance of bones, connective tissues, and other organs.

Skeletal abnormalities: One of the hallmark features of HCS is the presence of skeletal abnormalities. These can include osteoporosis (reduced bone density), osteopenia (low bone mass), and progressive bone loss. Individuals with HCS may also have short stature, joint hypermobility, and abnormalities in the shape and structure of the bones, particularly in the skull, spine, and hands.

Dental problems: Dental abnormalities are common in individuals with HCS. These can include early tooth loss, misalignment of teeth, overcrowding, and abnormalities in the shape and structure of the teeth. Dental problems can lead to difficulties in chewing, speaking, and maintaining proper oral hygiene.

Facial features: Some individuals with HCS may have distinct facial features, although these can vary widely. These features can include a prominent forehead, widely spaced eyes (hypertelorism), a small chin (micrognathia), and a flat nasal bridge.

Joint and connective tissue problems: HCS can affect the joints and connective tissues, leading to joint pain, joint instability, and an increased risk of dislocations. Connective tissue abnormalities can also cause skin hyperextensibility, easy bruising, and hernias.

Cardiovascular issues: Some individuals with HCS may experience cardiovascular problems, although these are less common. These can include abnormalities in the structure of the heart, such as valve defects or enlargement of the aorta.

Neurological symptoms: In rare cases, individuals with HCS may exhibit neurological symptoms. These can include developmental delays, intellectual disability, and seizures. However, it's important to note that these neurological symptoms are not present in all individuals with HCS.

Other features: Additional features that have been reported in individuals with HCS include hearing loss, respiratory problems, gastrointestinal issues, and genitourinary abnormalities. However, these features are less common and may not be present in all individuals with the syndrome.

Due to the wide range of symptoms associated with HCS, diagnosis can be challenging. A thorough clinical evaluation, genetic testing, and imaging studies are typically required to confirm the diagnosis. Treatment for HCS is mainly focused on managing the symptoms and complications associated with the syndrome. This may involve a multidisciplinary approach, including orthopedic care, dental interventions, and regular monitoring of cardiovascular and other organ systems.