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Handbook of Genetic Counseling/Treacher Collins

< Handbook of Genetic Counseling

Treacher Collins

Contracting

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  • Greet and welcome family
  • What are your questions and concerns for genetics?
  • Overview Agenda
    • Medical/Developmental/Family Hx updates
    • Discuss genetic contributions to Treacher Collins
    • Personnel from other specialties will be in to talk with you
    • Questions

Intake

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  • Basic Info
    • Age (yr & month)
    • Race/sex
    • Reason for referral
  • Medical History
    • Since your last visit, have you had any:
      • Surgeries?
      • Illnesses?
      • Hospitalizations?
      • Health concerns?
      • New medications?
  • Treatment History
    • What have you been doing/I see you have been doing ____________
      • How has this been working?
  • Developmental History
    • School_________________ Grade____________
    • Services: PT_________OT__________ Speech___________
    • Any special education classes?
    • Early Intervention?
    • Any private evaluations?
    • How would you say __ is functioning developmentally?
      • On tract?
      • What areas are lacking?
    • Activities
      • What does ___ enjoy doing?
      • Does he get to interact with peers?
  • Family History Update
    • New births?
    • New medical problems (psychological or medical)
  • Impressions: (discuss diagnosis, thoughts)
  • Psychosocial Assessment
    • What are things like at home?
    • Who lives at home?
      • Are you thinking of having more children?
    • How are you (parents) dealing with this diagnosis?
      • What resources have you found helpful?
      • Would you like more resources?
    • Do you (parents) find time for yourselves?
      • Who lives in the area to help you?
      • Who takes care of ___ when you need a break?
    • How are your financial resources?
      • Are you having any trouble paying for medical care?
      • What do you need that you don't have?
      • What services do you need that aren't covered by your insurance?

Treacher Collins Syndrome

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  • Mode of Inheritance: Autosomal Dominant
  • Chromosome Location: 5q32-q33.1
  • Molecular genetics:
    • Defective gene: treacle
    • Over 50% of case thought to be due to de novo mutations
    • Variable Expression
  • Incidence
  • Clinical Features
    • Abnormal external ears to almost complete absence of an ear
    • Hearing loss
    • Very small jaw (micrognathia)
    • Extra large mouth
    • Defect in the lower eyelid (coloboma)
    • Scalp hair extends onto cheeks
    • Cleft palate
  • Diagnosis
    • The child usually will show normal intelligence
    • Diagnosis usually made on features including:
      • Abnormal eye shape (palpebral fissure, slant)
      • A flat or hypoplastic malar region (cheekbones)
      • Facial clefts
      • Small jaw (micrognathia or hypoplastic mandible)
      • Low-set ears
      • Ear malformation (unusual shape to the ears)
      • Abnormal ear canal
      • Conductive hearing loss
      • Defects in the eye (coloboma that extends into the lower lid)
      • Decreased eyelashes on the lower eyelid
  • Management & Treatment
    • Screening for hearing loss
      • Intervention to allow better scholastic performance
    • Plastic surgery for small chin, cleft palate, and other defects
    • Complications
      • Feeding difficulty
      • Speaking difficulty
      • Communication problems
      • Vision problems
      • Cosmetic appearance can cause other people to think the problem is worse than it is
  • Prognosis
    • Children with Treacher-Collins grow to become normally functioning adults of normal intelligence.
    • Careful attention to any hearing problems helps ensure better performance in school.

Testing

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    • DNA Diagnostic Lab
Johns Hopkins Hospital
CMSC 1004
600 N. Wolfe St.
Baltimore, MD 21287
Contact: Barbara Karczeski, MS
email: bkarczes@jhmi.edu
phone: (410) 955-0483
fax: (410) 955-0484
Gene: TCOF1
Test: Direct mutation analysis by DNA sequencing
CPT Codes:
  • 83891 x 1
  • 83898 x 26
  • 83904 x 52
  • 83909 x 52
  • 83912 x 1
Sensitivity: 78-93%
Turnaround Time: 5 weeks
Cost:
  • $2630 per individual blood sample (for mutation identification)
  • Please call for prenatal and targeted mutation prices.
Special Considerations: N/A

Genes & Chromosomes

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  • CellsàChromosomesàGenes
    • Chromosome location: 5
  • AD inheritance
    • 50% chance of passing gene one
    • 40-50% of mutations are "de novo"

Resources

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  • Treacher Collins Foundation
P.O. Box 683
Norwich, Vermont 05055
1-800-823-2055
www.treachercollinsfnd.org
  • Treacher Collins Family Support Group (UK)
http://www.treachercollins.net
  • Treacher Collins Connection
http://www.tcconnection.org/

Conclusions

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  • Review session/diagnosis
  • Answer additional questions
  • Give resource info & contact info

Notes

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The information in this outline was last updated in June 2003.

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