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Genetic counseling: Cleft Palate - Pierre Robin Sequence-1

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Cleft Palate - Pierre Robin Sequence


  • Introduction
  • Do you have any concerns or questions you would like us to address?
  • Address any immediate concerns
  • Discuss reasons for being followed by genetics
  • Discuss how the genetics visit will include
    • Asking some standard questions about his health
    • Reviewing the family history
    • Tricia will discuss feeding issues and do a physical exam
    • Reviewing what we believe to be the reason for the problems he's experienced
    • We want to help make sure that you have all the resources and support possible

Interim HistoryEdit

Family HistoryEdit

Psychosocial AssessmentEdit

Cleft PalateEdit

  • Prevalence 1:2000 live births
  • More likely to be associated with a syndrome than cleft lip with or without cleft palate
  • At Super Duper Medical Center craniofacial team about 55% of children seen with cleft palate have underlying syndrome


  • Can be part of a sequence or syndrome
  • Sequence - anomaly or pattern of anomalies that arise from a single known or presumed anomaly or mechanical factor (usually known sequence of events with one thing that triggered it)
  • Syndrome - often due to an underlying genetic explanation or a common suspected cause for anomalies that are often associated with each other (often the characteristics are variable and often have multiple primary defects)

Pierre Robin SequenceEdit

  • Common cause of cleft palate (horseshoe shaped)
  • Associated with an underlying syndrome in over 50% of cases
  • Can occur in isolation
  • Not a diagnosis, but more of a description of the pathogenesis of cleft palate
  • Small jaw (micrognathia) due to interference of normal development of jaw at 9 wks
  • Forces tongue to remain high and tongue gets in the way and keeps the palate or roof of the mouth from closing off completely

Characteristics in Pierre RobinEdit

  • Often born with tongues positioned posteriorly
  • Can cause blockage of pharynx and airway (glossoptosis)
  • Affects feeding and breathing

Medical ManagementEdit

  • Place in prone position so gravity allows tongue to fall forward
  • Sometimes require nasopharyngeal airway (sometimes needed until 3-4 mths old)
  • Some require tracheostomy (tube directly in trachea to bypass upper airway obstruction
  • Usually in place until palate repair (about 14 mths ?)
  • Prevents most vocalizations which can exacerbate speech issues in future
  • Feeding difficulty occurs in most cases - difficulty coordinating breathing, sucking, swallowing
  • May require nasogastric tube for feeding or a gastrostomy tube (g tube)

Stickler Syndrome (possible differential)Edit

  • Most common identifiable cause cleft palate
  • AD disorder variable expressivity
  • Heterogeneous
  • At least 4 genes can cause
  • Diagnosis made clinically

Classic PhenotypeEdit

  • Pierre Robin Sequence
  • Cleft palate
  • Early onset osteoarthritis
  • Myopia -- Can be severe most mod to high
  • High risk for retinal detachments (follow close)
  • Sensorineural hearing loss common (follow with serial audiograms)
  • Facial Features
    • Micrognathia in infancy
    • Flat facial profile
    • Epicanthal folds
    • Midface hypoplasia
  • Development usually typical
  • No increased risk for LD
  • Problems related to cleft, hearing loss, tracheostomy

VCF (probably not as likely of a differential)Edit

  • 1 in 4000 live births
  • deletion 22q11 in 90% of patients diagnosed
  • most new deletions but 10-20% have affected parent
  • highly variable characteristics
    • most common --VPI
    • second most common - cleft palate
    • associated with Pierre Robin Sequence
    • congenital heart defects most commonly conotruncal
  • facial characteristics
    • microcephaly
    • narrow palpebral fissures
    • wide nasal root
    • bulbous nasal tip
    • thin upper lip
    • long face
    • micrognathia
  • many possible medical problems
  • developmental disabilities

Recurrance RisksEdit

  • Vary depending on the diagnosis
  • Pierre Robin Sequence 1-5% recurrence (ref #3)
  • What do you and Dr. Saal quote?
  • Stickler and VCF if new mutation than small risk probably 1%?
  • If parent affected than 50% recurrence

Support Group and Patient Info.Edit



The information in this outline was last updated in 2002.

Material obtained under GFDL Licence from

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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