Handbook of Genetic Counseling/Cleft Palate - Pierre Robin Sequence-1
Cleft Palate - Pierre Robin Sequence
Contracting
edit- 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
editFamily History
editPsychosocial Assessment
editCleft Palate
edit- 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
edit- 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
edit- 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
edit- Often born with tongues positioned posteriorly
- Can cause blockage of pharynx and airway (glossoptosis)
- Affects feeding and breathing
Medical Management
edit- 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)
edit- Most common identifiable cause cleft palate
- AD disorder variable expressivity
- Heterogeneous
- At least 4 genes can cause
- Diagnosis made clinically
Classic Phenotype
edit- 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 Risks
edit- 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- 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
edit- 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
editThe information in this outline was last updated in 2002.