Craniofacial dysostosis with diaphyseal hyperplasia

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1798

Definition

Stanescu type dysostosis is a rare form of osteosclerosis.

Epidemiology

So far it has been described in around 30 patients from three families.

Clinical description

It is characterized by craniofacial dysostosis with a small cranium and thin skull bone, depressions over the frontoparietal and occipitoparietal sutures, marked hypoplasia of mandible, exophthalmos, cortical sclerosis of the long bones and normal intelligence. The long bones are short and bent, and thickening of bone cortex occurs during the pubertal and post-pubertal periods and increases with age.

Genetic counseling

The syndrome is inherited in an autosomal dominant manner.

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