Chondrodystrophia Calcificans Congenita, also known as Conradi-Hünermann syndrome, is a rare genetic disorder characterized by skeletal abnormalities and a variety of other physical features. It is inherited in an X-linked dominant or autosomal dominant manner, though sporadic cases can also occur.
This condition primarily affects the development of bones and other tissues derived from cartilage. Infants with Chondrodystrophia Calcificans Congenita typically exhibit short stature and deformed limbs, with specific changes varying widely between individuals. These abnormalities commonly include curved or shortened long bones, uneven growth plates, fused vertebrae, and irregularly shaped bones in the spine, hands, and feet. Additionally, the disorder often presents with skin abnormalities, such as ichthyosis or patches of abnormal scaling and pigmentation.
Other potential features of Chondrodystrophia Calcificans Congenita may involve the eyes, hair, teeth, and hearing. Some individuals may experience cataracts, sparse hair, missing teeth, or hearing loss.
The underlying genetic cause of Chondrodystrophia Calcificans Congenita has been linked to mutations in the EBP gene, which is involved in cholesterol biosynthesis. This disruption in cholesterol metabolism is thought to contribute to the skeletal and skin abnormalities observed in affected individuals.
Treatment for Chondrodystrophia Calcificans Congenita is primarily focused on addressing the symptoms and managing any associated complications. This may include orthopedic procedures to improve limb alignment, physical therapy, and specialized care for skin and eye conditions.
