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.