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Condition/Disorder Synonyms

  • Pierre Robin syndrome

  • Pierre Robin Malformation Sequence

  • Pierre Robin complex

  • Pierre Robin anomaly

  • Pierre Robin triad

  • Robin Anomalad

  • Cleft Palate, Micrognathia and Glossoptosis

ICD-9-CM Code

  • 756.0 Anomalies of skull and face bones1

ICD-10-CM Code

  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

Preferred Practice Pattern

Key Features

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

Clinical Findings

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

Means of Confirmation or Diagnosis

Laboratory Tests

  • Genetic testing

  • DNA methylation analysis to assess if genetic link

Imaging

  • Radiography to assess craniofacial anatomy

Findings and Interpretation

  • Organ anomalies

Treatment

Medical Procedures

  • Surgery to repair the cleft palate

Referrals/Admittance

  • Admittance or continued hospitalization after birth for surgical repair, tracheostomy, gastrostomy, or tympanostomy tubes3

  • Otolaryngologist

  • Geneticist

  • Audiologist

  • Occupational therapist

  • Speech therapist

Impairments

  • Inability to achieve or sustain prone position while on elbows

  • Inability to roll

  • Inability to sit

  • Non-ambulatory

Tests and Measures

Intervention

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