# 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.