Handbook of Genetic Counseling/Pierre Robin Sequence - Cleft Palate

Pierre Robin Sequence - Cleft Palate

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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?