Handbook of Genetic Counseling/Frontonasal Dysplasia - Median Cleft Face Syndrome

Frontonasal Dysplasia - Median Cleft Face Syndrome Contracting How have things been going since your last visit? What questions or concerns would you like to address today? Interim History Which physicians are you seeing? When are your follow-up appointments scheduled? Recent tests: video swallowing study, audiologic evaluation, O2 saturation studies? How have things been going since the cleft palate repair? Any complications? Current feeding issues? Developmental assessment questions Rolling over? Sitting when supported? Pincher grasp? Reaching for objects? Babbling? Any consonant sounds? Words? Are you satisfied with OT/PT services? Have you noticed improvements? Psychosocial Assessment Who lives in the home with you? Are you working outside the home? Who cares for him when you are at work? Do you have any help with his care? Do you feel like you need help? Do you have support from family and friends? What is most concerning for you? Do you have any pets? Air conditioning (concern because of trach)? Possible psychosocial issues: Burden of caring for a child with complicated medical history Disruption of family, lifestyle Guilt, shock, denial, anger, fear about diagnosis Social stigma, poor self-esteem for child with disfiguring condition General Overview of Condition Rare condition in which the midface does not develop normally Affects the head and face May cause widely spaced eyes, a flat broad nose, and a vertical groove in middle of face Cause is not known but can be sporadic or familial Etiology Anomalies explained by single malformation Nasal capsule fails to develop properly causing disruption in the positioning in the eyes and lack of formation of nasal tip Considered nonspecific developmental field defect Most cases sporadic Some reports of familial aggregation but may be misdiagnosis Reported in dup(2q) syndrome Can occur as one feature in multiple malformation syndrome with recurrence risk is for syndrome Clinical Features Variability in severity of expression Eyes Hypertelorism Lateral displacement of inner canthi Forehead Widown's peak Defect in midline frontal bone (cranium bifidum occultum) Nose Varies from notched broad nasal tip, divided nostrils with hypoplasia, absence of prolabium and premaxilla with cleft lip Broad nasal root Lack of formation of nasal tip Occasional abnormalities Accessory nasal tags Anomalies of optic disk, optic nerve, retina, or eye (colobomas, cataracts) Preauricular tags, low-set ears Conductive deafness Mental deficiency (8-20%) Seems to be more severe when extracephalic anomalies occur or when hypertelorism is very severe Probability low if features above are not as sever Frontal cutaneous lipoma or lipoma of corpus callosum Agenesis of corpus collosum Anterior basal encephalocele Tetralogy of Fallot Cleft lip and/or cleft palate Usually requires radical cosmetic surgery to repair Natural history and lifespan depend on severity and complications but usually not significantly different from expected Differential Diagnosis Oculo-auricular-vertebral spectrum Frontofacionasal dysostosis - autosomal recessive inheritance Craniofrontonasal dysplasia Resources Children's Craniofacial Association (CCA) Phone: (800) 535-3643 Email: contactcca@ccakids.com Internet: http://www.ccakids.com FACES: The National Craniofacial Association Phone: (800) 332-2373 Email: faces@faces-cranio.org Internet: http://www.faces-cranio.org AboutFace U.S.A. Phone: (888) 486-1209 Email: AboutFace2000@aol.com Internet: http://www.aboutface2000.org References "Frontonasal Dysplasia." National Organization for Rare Disorders. http://www.rarediseases.org Gorlin RJ, Cohen MM, and Levin SL. "Syndromes with Unusual Facies." Syndromes of the Head and Neck. Oxford University Press (1990):785-788. Jones, KL. "Frontonasal Dysplasia Sequence." Smith's Recognizable Patterns of Human Malformation. W.B. Saunders Company (1980): 240-242. Notes The information in this outline was last updated in 2002.