Craniodiaphyseal dysplasia

Below you will find more information about Craniodiaphyseal dysplasia from Medigest. If you believe that you are suffering from any of the symptoms of Craniodiaphyseal dysplasia it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Craniodiaphyseal dysplasia and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Craniodiaphyseal dysplasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Craniodiaphyseal dysplasia (CDD or lionitis) is an uncommon hereditary autosomal recessive bone disorder characterized by deposits of calcium in the skull, causing the size of cranial foramina and the hole in the cervical spinal canal to shrink. This deforms facial features of the patients, who in most cases die at an early age.

Diagnosis

CDD is more manageable if detected earlier, as therapy targeting a specific bony defect is more effective if started during infancy. It is important to closely observe the condition of the patient and to routinely conduct magnetic resonance imaging to monitor the patient's condition. A combination of surgery, brain compression, control of rapid abnormal bone formation, and calcitriol/calcitonin therapy are crucial to ease the symptoms patients go through. Surgeries should be done with care because patients with CDD present problems to the anesthesiologist, especially difficulties with airway management and tracheal intubation.

Treatment

Mutation analysis of the TGFB1 gene needs to be conducted to eliminate the possibility of Camurati-Engelmann disease.

Symptoms and Signs

CDD patients appear to have abnormal rib structure, broad nose, coarse face, dense/thickened skull, depressed nasal bridge, enlarged diaphysis, and enlarged jaw. The small cranial foramina induces seizures, mental retardation and paralysis.

Causes

This disease is acquired genetically.

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