Free Online Database Of Diseases, Illnesses & Ailments


Craniodiaphyseal dysplasia

Craniodiaphyseal dysplasia Causes

This disease is acquired genetically.

Craniodiaphyseal dysplasia 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.

Craniodiaphyseal dysplasia 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.

Craniodiaphyseal dysplasia 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.

Craniodiaphyseal dysplasia Treatment

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

Most Viewed Pages

Recent Searches

Our Visitors Ask About

Medical News