Handbook of Genetic Counseling/Treacher Collins
Treacher Collins
Contracting
[edit | edit source]- 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
[edit | edit source]- 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?
- Since your last visit, have you had any:
- Treatment History
- What have you been doing/I see you have been doing ____________
- How has this been working?
- What have you been doing/I see you have been doing ____________
- 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
[edit | edit source]- 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
- Screening for hearing loss
- 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
[edit | edit source]- 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: |
|
| Sensitivity: | 78-93% |
| Turnaround Time: | 5 weeks |
| Cost: |
|
| Special Considerations: | N/A |
Genes & Chromosomes
[edit | edit source]- CellsàChromosomesàGenes
- Chromosome location: 5
- AD inheritance
- 50% chance of passing gene one
- 40-50% of mutations are "de novo"
Resources
[edit | edit source]- Treacher Collins Foundation
- P.O. Box 683
- Norwich, Vermont 05055
- 1-800-823-2055
- www.treachercollinsfnd.org
- Treacher Collins Family Support Group (UK)
- Treacher Collins Connection
Conclusions
[edit | edit source]- Review session/diagnosis
- Answer additional questions
- Give resource info & contact info
Notes
[edit | edit source]The information in this outline was last updated in June 2003.