Handbook of Genetic Counseling/Frontonasal Dysplasia - Median Cleft Face Syndrome
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Frontonasal Dysplasia - Median Cleft Face Syndrome
- 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?
- 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
- 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
- Lateral displacement of inner canthi
- Widown's peak
- Defect in midline frontal bone (cranium bifidum occultum)
- 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
- Children's Craniofacial Association (CCA)
- Phone: (800) 535-3643
- Email: email@example.com
- Internet: http://www.ccakids.com
- FACES: The National Craniofacial Association
- Phone: (800) 332-2373
- Email: firstname.lastname@example.org
- Internet: http://www.faces-cranio.org
- AboutFace U.S.A.
- Phone: (888) 486-1209
- Email: AboutFace2000@aol.com
- Internet: http://www.aboutface2000.org
- "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.
The information in this outline was last updated in 2002.