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

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Frontonasal Dysplasia - Median Cleft Face Syndrome

Contracting[edit | edit source]

  • How have things been going since your last visit?
  • What questions or concerns would you like to address today?

Interim History[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • 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[edit | edit source]

  • Oculo-auricular-vertebral spectrum
  • Frontofacionasal dysostosis - autosomal recessive inheritance
  • Craniofrontonasal dysplasia

Resources[edit | edit source]

  • 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[edit | edit source]

  • "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[edit | edit source]

The information in this outline was last updated in 2002.