# Handbook of Genetic Counseling/Pierre Robin Sequence - Cleft Palate

Pierre Robin Sequence - Cleft Palate

## Etiology

* Primary defect - hypoplasia/ retrognathia of the mandibular area
** Prior to 9th week of embryologic development
* Tongue is then posteriorly located
* Palatal shelves can not close properly
** Posterior region must grow over the tongue to midline
** Results in U-shaped cleft

## Mode of inheritance

* Most cases are sporadic
* Familial cases have been reported
* X-linked and AD modes have also been suggested

## Incidence

* 1:30,000 live births
* Recurrence risk of CP: 3-5 % (jumps to 10-15% of 2nd child born with cleft)

## Clinical Features

(Classic Triad = micrognathia, CP & glossoptosis)
* Micrognathia
* Cleft Palate (U-shaped)
* Glossoptosis/ Macroglossia
** Tongues falls backward and downwards
** Airway obstruction
* Feeding problems
* May also have:
** Ocular abnormalities (esotropia, congenital glaucoma)
** Cardiac anomalies (ASD, PDA, VSD)
** Some ear and skeletal defects have been reported

## Natural history and life span

* 30% mortality
* Prognosis good if they survive the respiratory issues
* Small jaw usually grows out during first two years
* Chromic ear infections may cause conductive hearing loss

## Testing

* Prenatal diagnosis:
** Not yet reliable
** Level II ultrasound at 18-20 weeks

## Surveillance, management and treatment options

* Airway obstruction
** Affected children should be monitored closely hypoxia and apnea
** Nurse children in the prone position
** Surgery to improve breathing (glossopexy or tracheostomy)
* Cleft Palate
** Feeding: use soft nipple with wide opening or squeeze bottle
** Surgery to repair cleft (9-18 mos)
** Ear infections: PE tubes
* Work up should include: genetics consult, ophthalmologic eval, hearing eval, ENT eval, speech tx, and orthodontic eval

## Differential diagnoses

* Associated with numerous syndromes
* trisomy 18
** feeble cry, polyhydramnios with small placenta, renal and cardiac abnormalities, short palbebral fissures
* Stickler syndrome
** Up to 30% - 40%
** Includes micrognathia, maxillary hypoplasia, epicanthal folds, depressed nasal bridge, hypotonia, hyperextensible joints, myopia, cataracts, retinal detachment
* VCFS
** Up to 15%
* Cryptorchidism
** Includes small mouth and mandible, overlapping 3rd and 5th digits, hypoplasia of nails, scissoring of limbs

## Support groups, financial and educational resources

* Pierre Robin Network (www.pierrerobin.org) - internet support group of parents
* Wide Smiles, Inc. (www.widesmiles.org) - lots of info for parents
* The Cleft Palate Foundation (CPF) (www.cleftline.org) or 1-800-24-CLEFT (24 hrs)

## Psychosocial Assessment

* How is BCMH working for you? And Early Intervention?
* Any problems managing pt's care?
* Nursing at home?
* How have you been coping?
* Do you have any support/ family in the area?

## References

* Smith's Recognizable patterns of Human Malformation, 5th Edition
* Developmental Defects and Syndromes
* The National Craniofacial Association (www.faces-cranio.org/Disord/PierreRobin.htm)
* Neonatology on the Web (www.neonatology.org/syllabus/pierre.robin.html)

## Notes

The information in this outline was last updated in June 2003.