Escobar syndrome- type B

Overview

Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.

Symptoms

• Scoliosis
• Pursed mouth
• Creased tongue
• Distal arthrogryposis
• Unusual facial appearance

Causes

disease is caused by aberrant splicing of ERBB3, which leads to a predicted truncated protein. ERBB3 (Her3), an activator of the phosphatidylinositol-3-kinase/Akt pathwayregulating cell survival and vesicle traffickingis essential for the generation of precursors of Schwann cells that normally accompany peripheral axons of motor neurons.