autosomal recessive Whistling face syndrome

A Freeman-Sheldon syndrome that has autosomal recessive inheritance.

Signs and symptoms

• Epicanthus
• Long philtrum
• Inguinal hernia
• Narrow mouth
• Blepharophimosis
• Short palpebral fissure
• Ulnar deviation of finger
• Hypertelorism
• High palate
• Kyphoscoliosis