Cleft Palate - Pierre Robin Sequence

Contracting

• 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 History

Family History

Psychosocial Assessment

Cleft Palate

• 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

Etiology

• 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 Sequence

• 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 Robin

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

Medical Management

• 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)
  • FOR SYNDROMES ASSOCIATED WITH PIERRE ROBIN ALSO SEE CHARTS ATTACHED

Stickler Syndrome (possible differential)

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

Classic Phenotype

• 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)

• 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 Risks

• 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.

• See attached sheet
• http://www.pierrerobin.org/index.html (good patient resource offers support e-mail network and information that is easy to understand and seemed mostly accurate)
• http://www.widesmiles.org/cleftlinks/WS-901.html ( patient literature and correspondence)

References

• Kummer, A.W. Cleft Palate and Craniofacial Anomalies Effects of Speech and Resonance. 2001. Thomson Learning Inc.
• http://www.pierrerobin.org/index.html (good patient resource offers support e-mail network and information that is easy to understand and seemed mostly accurate)
• http://www.widesmiles.org/cleftlinks/WS-901.html ( patient literature and correspondence)

Notes

The information in this outline was last updated in 2002.