Hajdu-Cheney syndrome is a rare genetic disorder characterized by skeletal abnormalities, facial abnormalities, and intellectual disability. It is caused by a mutation in the EXT2 gene, which is responsible for the production of a protein involved in the formation of bones and cartilage. Symptoms of Hajdu-Cheney syndrome can include short stature, scoliosis, hearing loss, and vision problems.

The most common symptoms of Hajdu-Cheney syndrome include:

-Delayed growth and development
-Intellectual disability
-Distinctive facial features, including a prominent forehead, deep-set eyes, a small jaw, and a pointed chin
-Hearing loss
-Abnormalities of the hands and feet, including short fingers and toes, and webbing between the fingers and toes
-Heart defects
-Kidney abnormalities
-Gastrointestinal problems, such as constipation and difficulty swallowing
-Seizures
-Skeletal abnormalities, such as Scoliosis and joint contractures

Hajdu-Cheney syndrome is caused by a mutation in the EXT2 gene. This gene is responsible for the production of a protein that helps regulate the growth of cartilage and bone. Mutations in this gene can lead to the development of the syndrome.

The treatments for Hajdu-Cheney syndrome vary depending on the individual and the severity of the condition. Generally, treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain, muscle spasms, and other symptoms. In some cases, genetic counseling may be recommended.

The primary risk factor for Hajdu-Cheney syndrome is having a parent who carries a mutation in the EXT2 gene. This gene mutation is inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to be affected by the condition. Other risk factors include having a family history of the condition, being of Ashkenazi Jewish descent, and being a male.

There is currently no cure for Hajdu-Cheney syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage pain, muscle spasms, and other symptoms. Physical and occupational therapy may also be recommended to help improve mobility and strength.