Nager syndrome also called acrofacial dystosis is a rare genetic disorder which causes physical deformities and hearing disorders.

Features       

  1. Facial deformities
    1. Downward Slanting palpebral fissures, eyelids turn inwards and expose the inner surface (This condition is called ectropion)
    2. Absence of lower eye lashes
    3. Absent or underdeveloped lower jaw
    4. Malformed  outer and middle ears ( can vary from mild problem to total absence)
    5. Cleft palate and submucous cleft
    6. Scalp hair extending on to cheek
  2. Limb deformities
    1. Upper limb defects include underdeveloped or missing thumbs and occasional absence of radial thumb
    2. Limitations of elbow extension
    3. Legs and toes are affected
  3. Internal anomalies
    1. Stomach and kidney reflux

Speech and Language characteristics

  1. Hearing loss can cause language delays
  2. Misarticulations may be present due to  hearing loss and oral structure anomalies
  3. Feeding difficulties are seen in most infants

Cause

The cause of Nager syndrome is unknown. Although the specific genes involved have not been identified, researchers believe that this condition is caused by changes in a particular region of chromosome 9 in some families.

Intervention

A team of professional is needed for managing children with Nager syndrome. Pediatricians, Craniofacial surgeons, Speech Language Pathologists, Audiologists and Eye specialists work in coordination for the success of such children