Fandom

Psychology Wiki

Genetic counseling: Frontonasal Dysplasia - Median Cleft Face Syndrome

34,203pages on
this wiki
Add New Page
Talk0 Share

Assessment | Biopsychology | Comparative | Cognitive | Developmental | Language | Individual differences | Personality | Philosophy | Social |
Methods | Statistics | Clinical | Educational | Industrial | Professional items | World psychology |

Clinical: Approaches · Group therapy · Techniques · Types of problem · Areas of specialism · Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences ·


Frontonasal Dysplasia - Median Cleft Face Syndrome

ContractingEdit

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

Interim HistoryEdit

  • 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 AssessmentEdit

  • 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 ConditionEdit

  • 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

EtiologyEdit

  • 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 FeaturesEdit

  • 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
  • Occassional 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 DiagnosisEdit

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

ResourcesEdit

  • 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

ReferencesEdit

  • "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.

NotesEdit

The information in this outline was last updated in 2002.



This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.

Heckert GNU white Permission is granted to copy, distribute and/or modify this document under the terms of the GNU Free Documentation License, Version 1.2 or any later version published by the Free Software Foundation; with no Invariant Sections, no Front-Cover Texts, and no Back-Cover Texts. A copy of the license is included in the section entitled "GNU Free Documentation License."

Ad blocker interference detected!


Wikia is a free-to-use site that makes money from advertising. We have a modified experience for viewers using ad blockers

Wikia is not accessible if you’ve made further modifications. Remove the custom ad blocker rule(s) and the page will load as expected.

Also on Fandom

Random Wiki