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Cerebro-costo-mandibular syndrome

Cerebro-costo-mandibular syndrome is a very rare genetic disorder which is characterized by jaw/chin, palate and rib abnormalities.

Signs and symptoms

The following list comprises the most common symptoms people with this disorder exhibit:

Common (but not the most) symptoms include:

Not common but also not rare symptoms include:

Causes

This disorder is caused by autosomal dominant mutations in the SNRPB gene, in chromosome 20.

Epidemiology

Only 110 cases have been described in medical literature.

References