Cerebro-costo-mandibular syndrome

Overview

A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.

Symptoms

* Mental deficiency * Speech difficulties * Growth deficiency * Very small lower jaw * Glossoptosis * Short soft palate * Cleft soft palate * Bell-shaped thorax * Small thorax * Gaps between ribs * Rudimentary ribs * Rib abnormalities * Pterygium colli * Abnormal tracheal cartilaginous rings * Vertebral anomalies * Elbow hypoplasia * Hearing loss * Renal cyst * Renal ectopia * Clubfoot * Congenital hip dislocation * Early death *40% die during first year * Rib gap defect

Diagnosis

signs and symptoms of Cerebrocostomandibular Syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Cerebrocostomandibular Syndrome symptoms.