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Condition/Disorder Synonyms

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  • Pierre Robin syndrome

  • Pierre Robin Malformation Sequence

  • Pierre Robin complex

  • Pierre Robin anomaly

  • Pierre Robin triad

  • Robin Anomalad

  • Cleft Palate, Micrognathia and Glossoptosis

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ICD-9-CM Code

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  • 756.0 Anomalies of skull and face bones1

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ICD-10-CM Code

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  • Q87.0 Congenital malformation syndromes predominantly affecting facial appearance2

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Preferred Practice Pattern

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Key Features

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Description

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  • 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

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Essentials of Diagnosis

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  • May have failure to thrive or severe respiratory distress3

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General Considerations

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  • 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

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Demographics

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  • Affects males and females equally unless X-linked3

  • 1 in 8,500 births6

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Clinical Findings

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Signs and Symptoms

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  • Ear infections

  • Breathing problems

  • Cleft soft palate

  • High arched palate

  • Small, retracted lower jaw

  • Natal teeth

  • Large tongue5

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Functional Implications

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  • Frequent ear infections6

  • Difficulty feeding

  • Decreased hearing

  • Delayed speech

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Possible Contributing Causes

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  • Unknown

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

  • May be autosomal recessive3

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Differential Diagnosis3

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  • Stickler syndrome

  • Trisomy 11q

  • Trisomy 18

  • Moebius syndrome

  • CHARGE syndrome

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Means of Confirmation or Diagnosis

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Laboratory Tests

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  • Genetic testing

  • DNA methylation analysis to assess if genetic link

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Imaging

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  • Radiography to assess craniofacial anatomy

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Findings and Interpretation

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  • Organ anomalies

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Treatment

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Medical Procedures

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  • Surgery to repair the cleft palate

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Referrals/Admittance

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

  • Otolaryngologist

  • Geneticist

  • Audiologist

  • Occupational therapist

  • Speech therapist

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Impairments

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  • Inability to achieve or sustain prone position while on elbows

  • Inability to roll

  • Inability to sit

  • Non-ambulatory

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Tests and Measures

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Intervention

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