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Genetic counseling: Pierre Robin Sequence - Cleft Palate

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Pierre Robin Sequence - Cleft Palate


  • Welcome back and introductions
  • Elicit parents main concerns
  • Give overview of session agenda

Medical History:

  • Trach - Any complications?
  • Feeding - How is it going?
  • Any recent illnesses, etc?


  • 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 inheritanceEdit

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


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

Clinical FeaturesEdit

(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 anomolies (ASD, PDA, VSD)
    • Some ear and skeletal defects have been reported

Natural history and life spanEdit

  • 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


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

Surveillance, management and treatment optionsEdit

  • 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 diagnosesEdit

  • 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 fols, 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 resourcesEdit

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

Psychosocial AssessmentEdit

  • 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?


  • Smith's Recognizable patterns of Human Malformation, 5th Edition
  • Developmental Defects and Syndromes
  • The National Craniofacial Association (
  • Neonatology on the Web (


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

This material has been imported fom the wikibook "Genetic counseling"[] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

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