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

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