Craniodiaphyseal Dysplasia

Definition

Definition of Craniodiaphyseal Dysplasia
Craniodiaphyseal dysplasia (also known as CDD or lionitis) is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy.

Symptoms

Symptoms of Craniodiaphyseal Dysplasia
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.

Diagnosis/Prognosis

Diagnosis/Prognosis of Craniodiaphyseal Dysplasia
Among the medical signs are dacryocystitis, seizures, mental retardation, and paralysis, each of which is a complication resulting from the diminutive foramina. A common sign reported as a result of the disease has been a difference of the size of the eyes.

Treatment

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

Misdiagnosis

Misdiagnosis of Craniodiaphyseal Dysplasia
Commonly undiagnosed conditions in related areas may include:

1. Adult ADHD
2. ADHD
3. Alzheimer Disease
4. Migraine
5. Concentration Disorders
6. Stroke
7. Bipolar Disorder
8. Schizophrenia
9. Epilepsy