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