# 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

## 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.