Handbook of 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 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.