# Handbook of Genetic Counseling/Treacher Collins

Treacher Collins

## Contracting

* 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

* 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

* 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

** 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

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

## Resources

* 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

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

## Notes

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