Skip to Main Content

  • Pierre Robin syndrome
  • Pierre Robin Malformation Sequence
  • Pierre Robin complex
  • Pierre Robin anomaly
  • Pierre Robin triad
  • Robin Anomalad
  • Cleft Palate, Micrognathia and Glossoptosis

  • 756.0 Anomalies of skull and face bones1

  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

Description

  • Group of congenital malformations usually a triad combination
    • Cleft palate (92%)3
    • Micrognathia
      • Small lower jaw
    • Glossoptosis (70 to 85%)3 at birth
      • Tongue tends to fall back toward the throat

Essentials of Diagnosis

  • May have failure to thrive or severe respiratory distress3

General Considerations

  • Presents as emergencies in the newborn period because of airway restriction
  • May have clubfeet or hearing loss (60%)3
  • CNS defects (50%)3
    • Developmental delay
    • Hypotonia
    • Hydrocephalus
  • Infants with Pierre Robin may have Strickler Syndrome and Velocardiofascial Syndrome
  • Congenital heart disease in 15%4

Demographics

  • Affects males and females equally unless X-linked3
  • 1 in 8,500 births6

Signs and Symptoms

  • Ear infections
  • Breathing problems
  • Cleft soft palate
  • High arched palate
  • Small, retracted lower jaw
  • Natal teeth
  • Large tongue5

Functional Implications

  • Frequent ear infections6
  • Difficulty feeding
  • Decreased hearing
  • Delayed speech

Possible Contributing Causes

  • Unknown
  • May be a result of positioning of the fetus in the beginning of pregnancy
  • May be autosomal recessive3

Differential Diagnosis3

  • Stickler syndrome
  • Trisomy 11q
  • Trisomy 18
  • Moebius syndrome
  • CHARGE syndrome

Laboratory Tests

  • Genetic testing
  • DNA methylation analysis to assess if genetic link

Imaging

  • Radiography to assess craniofacial anatomy

  • Organ anomalies

Medical Procedures

  • Surgery to repair the cleft palate

  • Admittance or continued hospitalization after birth for surgical repair, tracheostomy, gastrostomy, or tympanostomy tubes3
  • Otolaryngologist
  • Geneticist
  • Audiologist
  • Occupational therapist
  • Speech therapist

  • Inability to achieve or sustain prone position while on elbows
  • Inability to roll
  • Inability to sit
  • Non-ambulatory

  • Prevent asphyxia until the mandible becomes large enough to accommodate the tongue7
  • Supine positioning contraindicated until jaw grows or until surgical repair5
  • Prone positioning is preferred for infants3, 5
  • Therapeutic exercise
    • Strengthening
    • Stretching
  • Functional activities
    • Transfers
    • Gait training
    • Stair climbing
  • Neurodevelopmental treatment
    • Inhibition of spasticity
    • Facilitation of normal movement patterns
    • Acquisition of motor milestones

  • Sustain prone position on ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.