Genetic counseling: Cleft Palate - Pierre Robin Sequence-1

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

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)