Nager Syndrome is a condition which is extremely rare congenital defect with heriditary features which has only 25% of survival rates resulting from problems in the development of the first and second brachial arches. The first arches produce the nerves and muscles for chewing, the lower jaw, two of three bones in the middle ear, and a small part of the ears. The second arches produce the nerves and muscles of facial expression, one bone in the middle ear, most of the external ears, and parts of the bone above the larynx.

Causes

The exact cause is not known, because this is a rare syndrome and genetic research is difficult to conduct. It is shown from studies that it passed on from the parent to offspring through dominant gene.

Autosomal inheritance and most of the cases are sporadic.

Symptoms and signs

• Underdevelopment of the cheek and jaw area
• Down-sloping of the opening of the eyes
• Lack or absence of the lower eyelashes
• Scalp hair extending on to the face
• Lack of development of the internal and external ear
• Possible cleft palate
• Underdevelopment or absence of the thumb
• Shortened forearms and poor movement in the elbow
• Occasional absence of radial limb
• Stomach and kidney reflux, hearing loss, limitation of arm movements, heart problems

Diagnosis

Diagnosis is made on the clinical features and history of the child and parents

Genetic testing

Treatment

Several surgeries may be necessary depending on the severity of child's Nager Syndrome. But most of the patients almost 75% of them don’t survive. Some surgeries which may be needed are:  

• Tracheostomy to help with breathing
• Gastrostomy tube to assure proper nutrition 
• Craniofacial surgery to the jaw and ears