Arthrogryposis- distal- type 2E

Synonyms

1

Overview

A rare syndrome characterized by contractures of the fingers and jaw.

Symptoms

• Small mouth
• Small jaw
• Flexion contracture of the hand
• Jaw contractures
• Limited jaw movement
• Slightly small head
• Absent ear antihelix
• Flexion contracture of the feet
• Partial dislocation of the fingers
• Clubfeet
• Mild developmental delay
• Horizontal chin groove
• Asymmetrical face
• Reduced facial expression
• High arched palate

Treatment

Depending on the degree of foot deformities, patients may benefit from Achilles tendon lengthening, tendon transfers, hammertoe correction, and release of the plantar fascia. However, such surgeries can often be prevented by conservative measures and lifelong follow-up with physical therapists.