Craniodiaphyseal dysplasia is a rare genetic disorder that causes excessive calcium buildup in bones, leading to thickening and hardness. It can be fatal in infancy due to neurological complications, and treatment options are limited. The condition affects the skull and face, causing facial distortion and neurological symptoms such as blindness and paralysis. The rest of the body can also be affected, and the condition is difficult to diagnose due to its rarity.
Craniodiaphyseal dysplasia is an unusual genetic disorder in which calcium builds up excessively in bones, causing extreme thickening and hardness. It is progressive and typically becomes fatal in infancy because it interferes so severely with neurological function. Treatment options are available to manage craniodiaphyseal dysplasia, including surgery and medications to improve quality of life. Also known as leonitis, the condition appears to be recessive and very few cases have been described, making it difficult to determine the genetic links.
Some of the most pronounced features of this disease appear in the skull and face. As the skull thickens, facial features may distort and the patient’s face may become rounded and elongated. Inside the skull, the series of holes known as foramina that provide openings for nerves, blood vessels, and ligaments begin to narrow. Initially this can cause problems such as recurring sinus infections due to poor drainage.
Over time, neurological symptoms may develop because the narrowing foramina begin to compress the patient’s nerves. Blindness and deafness can occur, and patients can develop partial or total paralysis due to compression of the spinal cord. A doctor may recommend decompression surgery, but craniodiaphyseal dysplasia can replace the bone removed after surgery, and the problem can recur. Surgery can also carry significant risks, as it can involve delicate structures.
The rest of the body may also develop signs of craniodiaphyseal dysplasia. The growth plates at the ends of long bones can begin to thicken and harden too soon. On an X-ray, you may see areas of unusual bone density, showing areas where too much calcium builds up and there are large numbers of osteoblasts, the cells that make new bone. Eventually, the thickening can outpace the available treatments and the patient can die from compression of the nerves and blood vessels.
This skeletal disorder is highly unusual and is typically not considered in young patients with skeletal abnormalities. As the condition progresses, a diagnosis of craniodiaphyseal dysplasia may become more apparent, because it may be the only condition that truly fits the symptoms. The extreme rarity of the condition may make it a topic of interest to specialists, who may be able to offer management and treatment suggestions taking advantage of new drugs and surgical techniques. As of 2011, little was known about the disorder and prenatal diagnostic testing was not available or considered a high priority due to the condition’s low incidence.
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