Pierre Robin Syndrome is a condition in which the affected child is born with the following cardinal features

  1. Small lower jaw ( micrognathia) or set back from the upper jaw ( retrognathia)
  2. Tongue falls at back of the mouth and towards the throat, obstructing the airway ( glossoptosis)
  3. Breathing problems
  4. Occasional presence of horseshoe shaped cleft palate.

The condition is variously called as Pierre Robin sequence/complex, Robin Anomalad. It is estimated that this condition occurs in 1 in 2000 to 30,000 births.

Features

  1. Difficulty in breathing
  2. Feeding and swallowing difficulties
  3. Middle ear infections causing conductive hearing loss
  4. Delayed speech and Language milestones
  5. Deviant speech and Misarticulations

About 40% of infants with Pierre Robin have Stickler Syndrome and about 15% have Velocardio- facial Syndrome

Cause

The exact cause is unknown, although the following have been outlined –

  1. External factors such as overcrowding in the uterus
  2. Neurological conditions which lead to decreased movement of the jaw
  3. A genetic abnormality exists in conjunction with PRS

During the 7-10 weeks of pregnancy, the lower jaw grows rapidly, and allows the tongue to descend from the palate. In Pierre Robin Syndrome, the  lower jaw doesn’t grow normally hence the tongue prevents the palate from closing resulting in cleft palate. The same reason causes the tongue to be positioned at the back of the mouth, causing breathing difficulty at birth.

Intervention

A craniofacial team might be needed to effectively manage this condition. Surgeries to correct the breathing, and cleft palate might be needed. Surgeons, Pediatricians, Speech language pathologists, Audiologists, ENT specialists are all an integral part of the team.